Skip to main content
Erschienen in: Clinical Reviews in Allergy & Immunology 2/2019

13.05.2018

Gastrointestinal Disorders Associated with Primary Immunodeficiency Diseases

verfasst von: Stella Hartono, Michelina Rosa Ippoliti, Maria Mastroianni, Ricardo Torres, Nicholas L. Rider

Erschienen in: Clinical Reviews in Allergy & Immunology | Ausgabe 2/2019

Einloggen, um Zugang zu erhalten

Abstract

There are now 354 inborn errors of immunity (primary immunodeficiency diseases (PIDDs)) with 344 distinct molecular etiologies reported according to the International Union of Immunological Sciences (IUIS) (Clin Gastroenterol Hepatol 11: p. 1050-63, 2013, Semin Gastrointest Dis 8: p. 22-32, 1997, J Clin Immunol 38: p. 96-128, 2018). Using the IUIS document as a reference and cross-checking PubMed (www.​ncbi.​nlm.​nih.​pubmed.​gov), we found that approximately one third of the 354 diseases of impaired immunity have a gastrointestinal component [J Clin Immunol 38: p. 96-128, 2018]. Often, the gastrointestinal symptomatology and pathology is the heralding sign of a PIDD; therefore, it is important to recognize patterns of disease which may manifest along the gastrointestinal tract as a more global derangement of immune function. As such, holistic consideration of immunity is warranted in patients with clinically significant gastrointestinal disease. Here, we discuss the manifold presentations and GI-specific complications of PIDDs which could lead patients to seek advice from a variety of clinician specialists. Often, patients with these medical problems will engage general pediatricians, surgeons, gastroenterologists, rheumatologists, and clinical immunologists among others. Following delineation of the presenting concern, accurate and often molecular diagnosis is imperative and a multi-disciplinary approach warranted for optimal management. In this review, we will summarize the current state of understanding of PIDD gastrointestinal disease involvement. We will do so by focusing upon gastrointestinal disease categories (i.e., inflammatory, diarrhea, nodular lymphoid hyperplasia, liver/biliary tract, structural disease, and oncologic disease) with an intent to aid the healthcare provider who may encounter a patient with an as-yet undiagnosed PIDD who presents initially with a gastrointestinal symptom, sign, or problem.
Literatur
1.
Zurück zum Zitat Petersen BS, August D, Abt R, Alddafari M, Atarod L, Baris S, Bhavsar H, Brinkert F, Buchta M, Bulashevska A, Chee R, Cordeiro AI, Dara N, Dückers G, Elmarsafy A, Frede N, Galal N, Gerner P, Glocker EO, Goldacker S, Hammermann J, Hasselblatt P, Havlicekova Z, Hübscher K, Jesenak M, Karaca NE, Karakoc-Aydiner E, Kharaghani MM, Kilic SS, Kiykim A, Klein C, Klemann C, Kobbe R, Kotlarz D, Laass MW, Leahy TR, Mesdaghi M, Mitton S, Neves JF, Öztürk B, Pereira LF, Rohr J, Restrepo JLR, Ruzaike G, Saleh N, Seneviratne S, Senol E, Speckmann C, Tegtmeyer D, Thankam P, van der Werff ten Bosch J, von Bernuth H, Zeissig S, Zeissig Y, Franke A, Grimbacher B (2017) Targeted gene panel sequencing for early-onset inflammatory bowel disease and chronic diarrhea. Inflamm Bowel Dis 23(12):2109–2120PubMedCrossRef Petersen BS, August D, Abt R, Alddafari M, Atarod L, Baris S, Bhavsar H, Brinkert F, Buchta M, Bulashevska A, Chee R, Cordeiro AI, Dara N, Dückers G, Elmarsafy A, Frede N, Galal N, Gerner P, Glocker EO, Goldacker S, Hammermann J, Hasselblatt P, Havlicekova Z, Hübscher K, Jesenak M, Karaca NE, Karakoc-Aydiner E, Kharaghani MM, Kilic SS, Kiykim A, Klein C, Klemann C, Kobbe R, Kotlarz D, Laass MW, Leahy TR, Mesdaghi M, Mitton S, Neves JF, Öztürk B, Pereira LF, Rohr J, Restrepo JLR, Ruzaike G, Saleh N, Seneviratne S, Senol E, Speckmann C, Tegtmeyer D, Thankam P, van der Werff ten Bosch J, von Bernuth H, Zeissig S, Zeissig Y, Franke A, Grimbacher B (2017) Targeted gene panel sequencing for early-onset inflammatory bowel disease and chronic diarrhea. Inflamm Bowel Dis 23(12):2109–2120PubMedCrossRef
2.
Zurück zum Zitat Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schäffer AA, Noyan F, Perro M, Diestelhorst J, Allroth A, Murugan D, Hätscher N, Pfeifer D, Sykora KW, Sauer M, Kreipe H, Lacher M, Nustede R, Woellner C, Baumann U, Salzer U, Koletzko S, Shah N, Segal AW, Sauerbrey A, Buderus S, Snapper SB, Grimbacher B, Klein C (2009) Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N Engl J Med 361(21):2033–2045PubMedPubMedCentralCrossRef Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schäffer AA, Noyan F, Perro M, Diestelhorst J, Allroth A, Murugan D, Hätscher N, Pfeifer D, Sykora KW, Sauer M, Kreipe H, Lacher M, Nustede R, Woellner C, Baumann U, Salzer U, Koletzko S, Shah N, Segal AW, Sauerbrey A, Buderus S, Snapper SB, Grimbacher B, Klein C (2009) Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N Engl J Med 361(21):2033–2045PubMedPubMedCentralCrossRef
3.
Zurück zum Zitat Atarod L et al (2003) A review of gastrointestinal disorders in patients with primary antibody immunodeficiencies during a 10-year period (1990–2000), in children hospital medical center. Iran J Allergy Asthma Immunol 2(2):75–79PubMed Atarod L et al (2003) A review of gastrointestinal disorders in patients with primary antibody immunodeficiencies during a 10-year period (1990–2000), in children hospital medical center. Iran J Allergy Asthma Immunol 2(2):75–79PubMed
4.
Zurück zum Zitat Glocker E, Grimbacher B (2012) Inflammatory bowel disease: is it a primary immunodeficiency? Cell Mol Life Sci 69(1):41–48PubMedCrossRef Glocker E, Grimbacher B (2012) Inflammatory bowel disease: is it a primary immunodeficiency? Cell Mol Life Sci 69(1):41–48PubMedCrossRef
5.
Zurück zum Zitat Henderson P, Hansen R, Cameron FL, Gerasimidis K, Rogers P, Bisset MW, Reynish EL, Drummond HE, Anderson NH, van Limbergen J, Russell RK, Satsangi J, Wilson DC (2012) Rising incidence of pediatric inflammatory bowel disease in Scotland. Inflamm Bowel Dis 18:999–1005PubMedCrossRef Henderson P, Hansen R, Cameron FL, Gerasimidis K, Rogers P, Bisset MW, Reynish EL, Drummond HE, Anderson NH, van Limbergen J, Russell RK, Satsangi J, Wilson DC (2012) Rising incidence of pediatric inflammatory bowel disease in Scotland. Inflamm Bowel Dis 18:999–1005PubMedCrossRef
6.
Zurück zum Zitat Benchimol E et al (2014) Incidence, outcomes and health services burden of children with very early onset inflammatory bowel disease. Gastroenterology 147:803–813.e7PubMedCrossRef Benchimol E et al (2014) Incidence, outcomes and health services burden of children with very early onset inflammatory bowel disease. Gastroenterology 147:803–813.e7PubMedCrossRef
7.
Zurück zum Zitat Silverberg M et al (2005) Toward an integrated clinical, molecular and serological classification of inflammatory bowel disease: report of a Working Party of the 2005 Montreal World Congress of Gastroenterology. Can J Gastroenterol 19(suppl A):5A–36APubMedCrossRef Silverberg M et al (2005) Toward an integrated clinical, molecular and serological classification of inflammatory bowel disease: report of a Working Party of the 2005 Montreal World Congress of Gastroenterology. Can J Gastroenterol 19(suppl A):5A–36APubMedCrossRef
8.
Zurück zum Zitat Uhlig HH et al (2014) The Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease. Gastroenterology 147:990–1007PubMedCrossRef Uhlig HH et al (2014) The Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease. Gastroenterology 147:990–1007PubMedCrossRef
9.
Zurück zum Zitat Levine A, Griffiths A, Markowitz J, Wilson DC, Turner D, Russell RK, Fell J, Ruemmele FM, Walters T, Sherlock M, Dubinsky M, Hyams JS (2011) Pediatric modification of the Montreal classification for inflammatory bowel disease: the Paris classification. Inflamm Bowel Dis 17:1314–1321PubMedCrossRef Levine A, Griffiths A, Markowitz J, Wilson DC, Turner D, Russell RK, Fell J, Ruemmele FM, Walters T, Sherlock M, Dubinsky M, Hyams JS (2011) Pediatric modification of the Montreal classification for inflammatory bowel disease: the Paris classification. Inflamm Bowel Dis 17:1314–1321PubMedCrossRef
10.
Zurück zum Zitat Agarwal S, Mayer L (2013) Diagnosis and treatment of gastrointestinal disorders in patients with primary immunodeficiency. Clin Gastroenterol Hepatol 11(9):1050–1063PubMedCrossRefPubMedCentral Agarwal S, Mayer L (2013) Diagnosis and treatment of gastrointestinal disorders in patients with primary immunodeficiency. Clin Gastroenterol Hepatol 11(9):1050–1063PubMedCrossRefPubMedCentral
11.
Zurück zum Zitat Ament ME (1985) Immunodeficiency syndromes and the gut. Scand J Gastroenterol Suppl 114:127–135PubMedCrossRef Ament ME (1985) Immunodeficiency syndromes and the gut. Scand J Gastroenterol Suppl 114:127–135PubMedCrossRef
12.
13.
Zurück zum Zitat Bonilla FA, Barlan I, Chapel H, Costa-Carvalho BT, Cunningham-Rundles C, de la Morena MT, Espinosa-Rosales FJ, Hammarström L, Nonoyama S, Quinti I, Routes JM, Tang MLK, Warnatz K (2016) International consensus document (ICON): common variable immunodeficiency disorders. J Allergy Clin Immunol 4(1):38–59CrossRef Bonilla FA, Barlan I, Chapel H, Costa-Carvalho BT, Cunningham-Rundles C, de la Morena MT, Espinosa-Rosales FJ, Hammarström L, Nonoyama S, Quinti I, Routes JM, Tang MLK, Warnatz K (2016) International consensus document (ICON): common variable immunodeficiency disorders. J Allergy Clin Immunol 4(1):38–59CrossRef
14.
Zurück zum Zitat Pecoraro A, Nappi L, Crescenzi L, D’Armiento FP, Genovese A, Spadaro G (2018) Chronic diarrhea in common variable immunodeficiency: a case series and review of the literature. J Clin Immunol 38:67–76PubMedCrossRef Pecoraro A, Nappi L, Crescenzi L, D’Armiento FP, Genovese A, Spadaro G (2018) Chronic diarrhea in common variable immunodeficiency: a case series and review of the literature. J Clin Immunol 38:67–76PubMedCrossRef
15.
Zurück zum Zitat Picard C, Bobby Gaspar H, al-Herz W, Bousfiha A, Casanova JL, Chatila T, Crow YJ, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Tang MLK, Tangye SG, Torgerson TR, Sullivan KE (2018) International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee report on inborn errors of immunity. J Clin Immunol 38(1):96–128PubMedCrossRef Picard C, Bobby Gaspar H, al-Herz W, Bousfiha A, Casanova JL, Chatila T, Crow YJ, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Tang MLK, Tangye SG, Torgerson TR, Sullivan KE (2018) International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee report on inborn errors of immunity. J Clin Immunol 38(1):96–128PubMedCrossRef
16.
Zurück zum Zitat Kammermeier J, Dziubak R, Pescarin M, Drury S, Godwin H, Reeve K, Chadokufa S, Huggett B, Sider S, James C, Acton N, Cernat E, Gasparetto M, Noble-Jamieson G, Kiparissi F, Elawad M, Beales PL, Sebire NJ, Gilmour K, Uhlig HH, Bacchelli C, Shah N (2017) Phenotypic and genotypic characterisation of inflammatory bowel disease presenting before the age of 2 years. J Crohn’s Colitis 11:60–69CrossRef Kammermeier J, Dziubak R, Pescarin M, Drury S, Godwin H, Reeve K, Chadokufa S, Huggett B, Sider S, James C, Acton N, Cernat E, Gasparetto M, Noble-Jamieson G, Kiparissi F, Elawad M, Beales PL, Sebire NJ, Gilmour K, Uhlig HH, Bacchelli C, Shah N (2017) Phenotypic and genotypic characterisation of inflammatory bowel disease presenting before the age of 2 years. J Crohn’s Colitis 11:60–69CrossRef
17.
Zurück zum Zitat Quigley E, Carmichael H, Watkinson G (1986) Case report and review of the relationships between vitamin B12 deficiency, small intestinal mucosal disease and immunoglobulin deficiency. J Clin Gastroenterol 8:277–281PubMedCrossRef Quigley E, Carmichael H, Watkinson G (1986) Case report and review of the relationships between vitamin B12 deficiency, small intestinal mucosal disease and immunoglobulin deficiency. J Clin Gastroenterol 8:277–281PubMedCrossRef
18.
Zurück zum Zitat Spector J (1974) Juvenile achlorhydric pernicious anemia with IgA deficiency. A family study. JAMA 228:334–336PubMedCrossRef Spector J (1974) Juvenile achlorhydric pernicious anemia with IgA deficiency. A family study. JAMA 228:334–336PubMedCrossRef
19.
Zurück zum Zitat Barzaghi F, Passerini L, Bacchetta R (2012) Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity. Front Immunol 3:211PubMedCrossRefPubMedCentral Barzaghi F, Passerini L, Bacchetta R (2012) Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity. Front Immunol 3:211PubMedCrossRefPubMedCentral
20.
Zurück zum Zitat Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, Whitesell L, Kelly TE, Saulsbury FT, Chance PF, Ochs HD (2001) The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet 27(1):20–21PubMedCrossRef Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, Whitesell L, Kelly TE, Saulsbury FT, Chance PF, Ochs HD (2001) The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet 27(1):20–21PubMedCrossRef
21.
Zurück zum Zitat Gambineri E et al (2008) Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity. J Allergy Clin Immunol 122(6):1105–1112 e1PubMedCrossRef Gambineri E et al (2008) Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity. J Allergy Clin Immunol 122(6):1105–1112 e1PubMedCrossRef
22.
Zurück zum Zitat Duclaux-Loras R, Collardeau-Frachon S, Nancey S, Fabien N, Kaiserlian D, Lachaux A (2015) Long-term disease course in a patient with severe neonatal IPEX syndrome. Clin Res Hepatol Gastroenterol 39(4):e43–e47PubMedCrossRef Duclaux-Loras R, Collardeau-Frachon S, Nancey S, Fabien N, Kaiserlian D, Lachaux A (2015) Long-term disease course in a patient with severe neonatal IPEX syndrome. Clin Res Hepatol Gastroenterol 39(4):e43–e47PubMedCrossRef
23.
Zurück zum Zitat Guerrerio AL, Frischmeyer-Guerrerio PA, Lederman HM, Oliva-Hemker M (2010) Recognizing gastrointestinal and hepatic manifestations of primary immunodeficiency diseases. J Pediatr Gastroenterol Nutr 51(5):548–555PubMedCrossRef Guerrerio AL, Frischmeyer-Guerrerio PA, Lederman HM, Oliva-Hemker M (2010) Recognizing gastrointestinal and hepatic manifestations of primary immunodeficiency diseases. J Pediatr Gastroenterol Nutr 51(5):548–555PubMedCrossRef
24.
Zurück zum Zitat Scaillon M, van Biervliet S, Bontems P, Dorchy H, Hanssens L, Ferster A, Segers V, Cadranel S (2009) Severe gastritis in an insulin-dependent child with an IPEX syndrome. J Pediatr Gastroenterol Nutr 49(3):368–370PubMedCrossRef Scaillon M, van Biervliet S, Bontems P, Dorchy H, Hanssens L, Ferster A, Segers V, Cadranel S (2009) Severe gastritis in an insulin-dependent child with an IPEX syndrome. J Pediatr Gastroenterol Nutr 49(3):368–370PubMedCrossRef
25.
Zurück zum Zitat D’Hennezel E et al (2009) FOXP3 forkhead domain mutation and regulatory T cells in the IPEX sydrome. NEJM 17(Oct 22 361):1710–1713CrossRef D’Hennezel E et al (2009) FOXP3 forkhead domain mutation and regulatory T cells in the IPEX sydrome. NEJM 17(Oct 22 361):1710–1713CrossRef
26.
Zurück zum Zitat de Serre Patey-Mariaud N et al (2009) Digestive histopathological presentation of IPEX syndrome. Mod Pathol 22(1):95–102CrossRef de Serre Patey-Mariaud N et al (2009) Digestive histopathological presentation of IPEX syndrome. Mod Pathol 22(1):95–102CrossRef
27.
Zurück zum Zitat Torgerson TR, Linane A, Moes N, Anover S, Mateo V, Rieux–Laucat F, Hermine O, Vijay S, Gambineri E, Cerf–Bensussan N, Fischer A, Ochs HD, Goulet O, Ruemmele FM (2007) Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene. Gastroenterology 132(5):1705–1717PubMedCrossRef Torgerson TR, Linane A, Moes N, Anover S, Mateo V, Rieux–Laucat F, Hermine O, Vijay S, Gambineri E, Cerf–Bensussan N, Fischer A, Ochs HD, Goulet O, Ruemmele FM (2007) Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene. Gastroenterology 132(5):1705–1717PubMedCrossRef
28.
Zurück zum Zitat Barzaghi F et al (2017) Long-term follow up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study. J Allergy Clin Immunol 17(Epub ahead of print):31893–31896 Barzaghi F et al (2017) Long-term follow up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study. J Allergy Clin Immunol 17(Epub ahead of print):31893–31896
29.
Zurück zum Zitat Caudy AA, Reddy ST, Chatila T, Atkinson JP, Verbsky JW (2007) CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes. J Allergy Clin Immunol 119(2):482–487PubMedCrossRef Caudy AA, Reddy ST, Chatila T, Atkinson JP, Verbsky JW (2007) CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes. J Allergy Clin Immunol 119(2):482–487PubMedCrossRef
30.
31.
Zurück zum Zitat Ozgur T et al (2008) Hematopoietic stem cell transplantation in a CD3 gamma-deficient infant with inflammatory bowel disease. Pediatr Transplant 12(8):910–913PubMedCrossRef Ozgur T et al (2008) Hematopoietic stem cell transplantation in a CD3 gamma-deficient infant with inflammatory bowel disease. Pediatr Transplant 12(8):910–913PubMedCrossRef
32.
Zurück zum Zitat Alroqui F et al (2017) DOCK8 deficiency presenting as an IPEX-like disorder. J Clin Immunol 37(8):811–819CrossRef Alroqui F et al (2017) DOCK8 deficiency presenting as an IPEX-like disorder. J Clin Immunol 37(8):811–819CrossRef
33.
Zurück zum Zitat Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR (2017) Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol 139(1):232–245PubMedCrossRef Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR (2017) Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol 139(1):232–245PubMedCrossRef
34.
Zurück zum Zitat Vlantis K et al (2016) NEMO prevents RIP kinase 1-mediated epithelial cell death and chronic intestinal inflammation by NK-kB-dependent and -independent functions. Immunity 33(3):553–567CrossRef Vlantis K et al (2016) NEMO prevents RIP kinase 1-mediated epithelial cell death and chronic intestinal inflammation by NK-kB-dependent and -independent functions. Immunity 33(3):553–567CrossRef
35.
Zurück zum Zitat Nenci A et al (2007) Epithelial NEMO links innate immunity to chronic intestinal inflammation. Nature 446(7135):557–561PubMedCrossRef Nenci A et al (2007) Epithelial NEMO links innate immunity to chronic intestinal inflammation. Nature 446(7135):557–561PubMedCrossRef
36.
Zurück zum Zitat Tegtmeyer D et al (2017) Inflammatory bowel disease caused by primary immunodeficiencies—clinical presentations, review of literature and proposal of a rational diagnostic algorithm. Pediatr Allergy Immunol 28(5):412–429PubMedCrossRef Tegtmeyer D et al (2017) Inflammatory bowel disease caused by primary immunodeficiencies—clinical presentations, review of literature and proposal of a rational diagnostic algorithm. Pediatr Allergy Immunol 28(5):412–429PubMedCrossRef
37.
Zurück zum Zitat Klemann C, Pannicke U, Morris-Rosendahl DJ, Vlantis K, Rizzi M, Uhlig H, Vraetz T, Speckmann C, Strahm B, Pasparakis M, Schwarz K, Ehl S, Rohr JC (2016) Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency. Clin Immunol 164(Mar):52–56PubMedCrossRefPubMedCentral Klemann C, Pannicke U, Morris-Rosendahl DJ, Vlantis K, Rizzi M, Uhlig H, Vraetz T, Speckmann C, Strahm B, Pasparakis M, Schwarz K, Ehl S, Rohr JC (2016) Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency. Clin Immunol 164(Mar):52–56PubMedCrossRefPubMedCentral
38.
Zurück zum Zitat Permaul P, Narla A, Hornick JL, Pai SY (2009) Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: case report and review of outcomes. Immunol Res 44(1–3):89–98PubMedCrossRef Permaul P, Narla A, Hornick JL, Pai SY (2009) Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: case report and review of outcomes. Immunol Res 44(1–3):89–98PubMedCrossRef
39.
Zurück zum Zitat Cheng LE, Kanwar B, Tcheurekdjian H, Grenert JP, Muskat M, Heyman MB, McCune JM, Wara DW (2009) Persistent systemic inflammation and atypical enterocolitis in patients with NEMO syndrome. Clin Immunol 132(1):124–131PubMedCrossRefPubMedCentral Cheng LE, Kanwar B, Tcheurekdjian H, Grenert JP, Muskat M, Heyman MB, McCune JM, Wara DW (2009) Persistent systemic inflammation and atypical enterocolitis in patients with NEMO syndrome. Clin Immunol 132(1):124–131PubMedCrossRefPubMedCentral
40.
Zurück zum Zitat Mizukami T, Obara M, Nishikomori R, Kawai T, Tahara Y, Sameshima N, Marutsuka K, Nakase H, Kimura N, Heike T, Nunoi H (2012) Successful treatment with infliximab for inflammatory colitis in a patient with X-linked anhidrotic ectodermal dysplasia with immunodeficiency. J Clin Immunol 32(1):39–49PubMedCrossRef Mizukami T, Obara M, Nishikomori R, Kawai T, Tahara Y, Sameshima N, Marutsuka K, Nakase H, Kimura N, Heike T, Nunoi H (2012) Successful treatment with infliximab for inflammatory colitis in a patient with X-linked anhidrotic ectodermal dysplasia with immunodeficiency. J Clin Immunol 32(1):39–49PubMedCrossRef
41.
Zurück zum Zitat Barmettler S, Otani IM, Minhas J, Abraham RS, Chang Y, Dorsey MJ, Ballas ZK, Bonilla FA, Ochs HD, Walter JE (2017) Gastrointestinal manifestations in X-linked agammaglobulinemia. J Clin Immunol 37(3):287–294PubMedCrossRefPubMedCentral Barmettler S, Otani IM, Minhas J, Abraham RS, Chang Y, Dorsey MJ, Ballas ZK, Bonilla FA, Ochs HD, Walter JE (2017) Gastrointestinal manifestations in X-linked agammaglobulinemia. J Clin Immunol 37(3):287–294PubMedCrossRefPubMedCentral
42.
Zurück zum Zitat Washington K, Stenzel TT, Buckley RH, Gottfried MR (1996) Gastrointestinal pathology in patients with common variable immunodeficiency and X-linked agammaglobulinemia. Am J Surg Pathol 20(10):1240–1252CrossRefPubMed Washington K, Stenzel TT, Buckley RH, Gottfried MR (1996) Gastrointestinal pathology in patients with common variable immunodeficiency and X-linked agammaglobulinemia. Am J Surg Pathol 20(10):1240–1252CrossRefPubMed
43.
Zurück zum Zitat Shera IA, Khurshid SM, Bhat MS (2017) Inflammatory duodenal polyposis associated with primary immunodeficiency disease: a novel case report. Case Rep Med 2017:6206085PubMedCrossRefPubMedCentral Shera IA, Khurshid SM, Bhat MS (2017) Inflammatory duodenal polyposis associated with primary immunodeficiency disease: a novel case report. Case Rep Med 2017:6206085PubMedCrossRefPubMedCentral
45.
Zurück zum Zitat Kalha I, Sellin JH (2004) Common variable immunodeficiency and the gastrointestinal tract. Curr Gastroenterol Rep 6(5):377–383PubMedCrossRef Kalha I, Sellin JH (2004) Common variable immunodeficiency and the gastrointestinal tract. Curr Gastroenterol Rep 6(5):377–383PubMedCrossRef
46.
47.
Zurück zum Zitat Cunningham-Rundles C, Bodian C (1999) Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol 92(1):34–48PubMedCrossRef Cunningham-Rundles C, Bodian C (1999) Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol 92(1):34–48PubMedCrossRef
48.
Zurück zum Zitat Hermaszewski R, Webster A (1993) Primary hypogammaglobulinemia: a survey of clinical manifestations and complications. Q J Med 86(1):31–42PubMed Hermaszewski R, Webster A (1993) Primary hypogammaglobulinemia: a survey of clinical manifestations and complications. Q J Med 86(1):31–42PubMed
49.
Zurück zum Zitat Oksenhendler E et al (2008) Infections in 252 patients with common variable immunodeficiency. Clin Infect Dis 46(10):1547–1554PubMedCrossRef Oksenhendler E et al (2008) Infections in 252 patients with common variable immunodeficiency. Clin Infect Dis 46(10):1547–1554PubMedCrossRef
50.
Zurück zum Zitat Wood P, Stanworth S, Burton J, Jones A, Peckham DG, Green T, Hyde C, Chapel H, the UK Primary Immunodeficiency Network (2007) Recognition, clinical diagnosis and management of patients with primary antibody deficiencies: a systematic review. Clin Exp Immunol 149(3):410–423PubMedCrossRefPubMedCentral Wood P, Stanworth S, Burton J, Jones A, Peckham DG, Green T, Hyde C, Chapel H, the UK Primary Immunodeficiency Network (2007) Recognition, clinical diagnosis and management of patients with primary antibody deficiencies: a systematic review. Clin Exp Immunol 149(3):410–423PubMedCrossRefPubMedCentral
51.
Zurück zum Zitat Khodadad A, Aghamohammadi A, Parvaneh N, Rezaei N, Mahjoob F, Bashashati M, Movahedi M, Fazlollahi MR, Zandieh F, Roohi Z, Abdollahzade S, Salavati A, Kouhi A, Talebpour B, Daryani NE (2007) Gastrointestinal manifestations in patients with common variable immunodeficiency. Dig Dis Sci 52(11):2977–2983PubMedCrossRef Khodadad A, Aghamohammadi A, Parvaneh N, Rezaei N, Mahjoob F, Bashashati M, Movahedi M, Fazlollahi MR, Zandieh F, Roohi Z, Abdollahzade S, Salavati A, Kouhi A, Talebpour B, Daryani NE (2007) Gastrointestinal manifestations in patients with common variable immunodeficiency. Dig Dis Sci 52(11):2977–2983PubMedCrossRef
52.
Zurück zum Zitat Mannon PJ, Fuss IJ, Dill S, Friend J, Groden C, Hornung R, Yang Z, Yi C, Quezado M, Brown M, Strober W (2006) Excess IL-12 but not IL-23 accompanies the inflammatory bowel disease associated with common variable immunodeficiency. Gastroenterology 131(3):748–756PubMedCrossRef Mannon PJ, Fuss IJ, Dill S, Friend J, Groden C, Hornung R, Yang Z, Yi C, Quezado M, Brown M, Strober W (2006) Excess IL-12 but not IL-23 accompanies the inflammatory bowel disease associated with common variable immunodeficiency. Gastroenterology 131(3):748–756PubMedCrossRef
53.
Zurück zum Zitat Luzi G, Zullo A, Iebba F, Rinaldi V, Mete LS, Muscaritoli M, Aiuti F (2003) Duodenal pathology and clinical-immunological implications in common variable immunodeficiency patients. Am J Gastroenterol 98(1):118–121PubMedCrossRef Luzi G, Zullo A, Iebba F, Rinaldi V, Mete LS, Muscaritoli M, Aiuti F (2003) Duodenal pathology and clinical-immunological implications in common variable immunodeficiency patients. Am J Gastroenterol 98(1):118–121PubMedCrossRef
54.
Zurück zum Zitat Daniels JA, Lederman HM, Maitra A, Montgomery EA (2007) Gastrointestinal tract pathology in patients with common variable immunodeficiency (CVID): a clinicopathologic study and review. Am J Surg Pathol 31(12):1800–1812CrossRefPubMed Daniels JA, Lederman HM, Maitra A, Montgomery EA (2007) Gastrointestinal tract pathology in patients with common variable immunodeficiency (CVID): a clinicopathologic study and review. Am J Surg Pathol 31(12):1800–1812CrossRefPubMed
55.
Zurück zum Zitat Hermans PE, Diaz-Buxo JA, Stobo JD (1976) Idiopathic late-onset immunoglobulin deficiency. Clinical observations in 50 patients. Am J Med 61(2):221–237PubMedCrossRef Hermans PE, Diaz-Buxo JA, Stobo JD (1976) Idiopathic late-onset immunoglobulin deficiency. Clinical observations in 50 patients. Am J Med 61(2):221–237PubMedCrossRef
56.
Zurück zum Zitat Twomey JJ, Jordan PH, Jarrold T, Trubowitz S, Ritz ND, Conn HO (1969) The syndrome of immunoglobulin deficiency and pernicious anemia. A study of ten cases. Am J Med 47(3):340–350PubMedCrossRef Twomey JJ, Jordan PH, Jarrold T, Trubowitz S, Ritz ND, Conn HO (1969) The syndrome of immunoglobulin deficiency and pernicious anemia. A study of ten cases. Am J Med 47(3):340–350PubMedCrossRef
57.
Zurück zum Zitat Quinti I et al (2007) Long-term follow up and outcome of a large cohort of patients with common variable immunodeficiency. J Clin Immunol 27(3):308–316PubMedCrossRef Quinti I et al (2007) Long-term follow up and outcome of a large cohort of patients with common variable immunodeficiency. J Clin Immunol 27(3):308–316PubMedCrossRef
58.
Zurück zum Zitat Agarwal S, Smereka P, Harpaz N, Cunningham-Rundles C, Mayer L (2011) Characterization of immunologic defects in patients with common variable immunodeficiency (CVID) with intestinal disease. Inflamm Bowel Dis 17(1):251–259PubMedCrossRef Agarwal S, Smereka P, Harpaz N, Cunningham-Rundles C, Mayer L (2011) Characterization of immunologic defects in patients with common variable immunodeficiency (CVID) with intestinal disease. Inflamm Bowel Dis 17(1):251–259PubMedCrossRef
59.
Zurück zum Zitat Dhalla F, da Silva SP, Lucas M, Travis S, Chapel H (2011) Review of gastric cancer risk factors in patients with common variable immunodeficiency disorders, resulting in a proposal for a surveillance programme. Clin Exp Immunol 165(1):1–7PubMedCrossRefPubMedCentral Dhalla F, da Silva SP, Lucas M, Travis S, Chapel H (2011) Review of gastric cancer risk factors in patients with common variable immunodeficiency disorders, resulting in a proposal for a surveillance programme. Clin Exp Immunol 165(1):1–7PubMedCrossRefPubMedCentral
60.
Zurück zum Zitat Comunoglu, N., S.Kara, and N.Kepil, (2015) Inflammatory bowel disease-like colitis pathology in a patient with common variable immune deficiency. BMJ Case Rep 2015 Comunoglu, N., S.Kara, and N.Kepil, (2015) Inflammatory bowel disease-like colitis pathology in a patient with common variable immune deficiency. BMJ Case Rep 2015
61.
Zurück zum Zitat Bosworth BP, Sanders A, Maltz C (2006) Common variable immunodeficiency masquerading as Crohn’s ileocolitis. Inflamm Bowel Dis 12(2):151–152PubMedCrossRef Bosworth BP, Sanders A, Maltz C (2006) Common variable immunodeficiency masquerading as Crohn’s ileocolitis. Inflamm Bowel Dis 12(2):151–152PubMedCrossRef
62.
Zurück zum Zitat Mudter J, Wirtz S, Weigmann B, Tiede I, Tubbe I, Kiesslich R, Galle PR, Lehr HA, Neurath MF (2006) Crohn’s-like colitis in a patient with immunodeficiency associated with a defect in expression of inducible costimulator. Dig Dis Sci 51(4):711–717PubMedCrossRef Mudter J, Wirtz S, Weigmann B, Tiede I, Tubbe I, Kiesslich R, Galle PR, Lehr HA, Neurath MF (2006) Crohn’s-like colitis in a patient with immunodeficiency associated with a defect in expression of inducible costimulator. Dig Dis Sci 51(4):711–717PubMedCrossRef
63.
Zurück zum Zitat Baehner RL, Karnovsky ML (1968. Dec 13) Deficiency of reduced nicotinamide-adenine dinucleotide oxidase in chronic granulomatous disease. Science 162(3859):1277–1279PubMedCrossRef Baehner RL, Karnovsky ML (1968. Dec 13) Deficiency of reduced nicotinamide-adenine dinucleotide oxidase in chronic granulomatous disease. Science 162(3859):1277–1279PubMedCrossRef
64.
Zurück zum Zitat McPhail LC et al (1977) Deficiency of NADPH oxidase activity in chronic granulomatous disease. J Pediatr 90(2):213–217PubMedCrossRef McPhail LC et al (1977) Deficiency of NADPH oxidase activity in chronic granulomatous disease. J Pediatr 90(2):213–217PubMedCrossRef
65.
Zurück zum Zitat Abo A et al (1994) Activation of NADPH oxidase involves the dissociation of p21rac from its inhibitory GDP/GTP exchange protein (rhoGDI) followed by its translocation to the plasma membrane. Biochem J 298(Pt3):585–591PubMedPubMedCentralCrossRef Abo A et al (1994) Activation of NADPH oxidase involves the dissociation of p21rac from its inhibitory GDP/GTP exchange protein (rhoGDI) followed by its translocation to the plasma membrane. Biochem J 298(Pt3):585–591PubMedPubMedCentralCrossRef
66.
Zurück zum Zitat Hampton MB, Kettle AJ, Winterbourn CC (1996) Involvement of superoxide and myeloperoxidase in oxygen-dependent killing of Staphylococcus aureus by neutrophils. Infect Immun 64(9):3512–3517PubMedPubMedCentralCrossRef Hampton MB, Kettle AJ, Winterbourn CC (1996) Involvement of superoxide and myeloperoxidase in oxygen-dependent killing of Staphylococcus aureus by neutrophils. Infect Immun 64(9):3512–3517PubMedPubMedCentralCrossRef
67.
Zurück zum Zitat Rosen H, Klebanoff SJ (1979) Bactericidal activity of a superoxide anion-generating system. A model for the polymorphonuclear leukocyte. J Exp Med 149(1):27–39PubMedCrossRef Rosen H, Klebanoff SJ (1979) Bactericidal activity of a superoxide anion-generating system. A model for the polymorphonuclear leukocyte. J Exp Med 149(1):27–39PubMedCrossRef
68.
Zurück zum Zitat Kaplan EL, Laxdal T, Quie PG (1968) Studies of polymorphonuclear leukocytes from patients with chronic granulomatous disease of childhood; bactericidal capacity for streptococci. Pediatrics 41(3):591–599PubMedCrossRef Kaplan EL, Laxdal T, Quie PG (1968) Studies of polymorphonuclear leukocytes from patients with chronic granulomatous disease of childhood; bactericidal capacity for streptococci. Pediatrics 41(3):591–599PubMedCrossRef
69.
Zurück zum Zitat Magnani A et al (2014) Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease. J Allergy Clin Immunol 134(3):655–662 e8PubMedCrossRef Magnani A et al (2014) Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease. J Allergy Clin Immunol 134(3):655–662 e8PubMedCrossRef
70.
Zurück zum Zitat van den Berg JM, van Koppen E, Åhlin A, Belohradsky BH, Bernatowska E, Corbeel L, Español T, Fischer A, Kurenko-Deptuch M, Mouy R, Petropoulou T, Roesler J, Seger R, Stasia MJ, Valerius NH, Weening RS, Wolach B, Roos D, Kuijpers TW (2009) Chronic granulomatous disease: the European experience. PLoS One 4(4):e5234PubMedPubMedCentralCrossRef van den Berg JM, van Koppen E, Åhlin A, Belohradsky BH, Bernatowska E, Corbeel L, Español T, Fischer A, Kurenko-Deptuch M, Mouy R, Petropoulou T, Roesler J, Seger R, Stasia MJ, Valerius NH, Weening RS, Wolach B, Roos D, Kuijpers TW (2009) Chronic granulomatous disease: the European experience. PLoS One 4(4):e5234PubMedPubMedCentralCrossRef
71.
Zurück zum Zitat Raptaki M, Varela I, Spanou K, Tzanoudaki M, Tantou S, Liatsis M, Constantinidou N, Bakoula C, Roos D, Kanariou M (2013) Chronic granulomatous disease: a 25-year patient registry based on a multistep diagnostic procedure, from the referral center for primary immunodeficiencies in Greece. J Clin Immunol 33(8):1302–1309PubMedCrossRef Raptaki M, Varela I, Spanou K, Tzanoudaki M, Tantou S, Liatsis M, Constantinidou N, Bakoula C, Roos D, Kanariou M (2013) Chronic granulomatous disease: a 25-year patient registry based on a multistep diagnostic procedure, from the referral center for primary immunodeficiencies in Greece. J Clin Immunol 33(8):1302–1309PubMedCrossRef
72.
Zurück zum Zitat Marciano BE, Rosenzweig SD, Kleiner DE, Anderson VL, Darnell DN, Anaya-O'Brien S, Hilligoss DM, Malech HL, Gallin JI, Holland SM (2004) Gastrointestinal involvement in chronic granulomatous disease. Pediatrics 114(2):462–468PubMedCrossRef Marciano BE, Rosenzweig SD, Kleiner DE, Anderson VL, Darnell DN, Anaya-O'Brien S, Hilligoss DM, Malech HL, Gallin JI, Holland SM (2004) Gastrointestinal involvement in chronic granulomatous disease. Pediatrics 114(2):462–468PubMedCrossRef
73.
Zurück zum Zitat Winkelstein JA, Marino MC, Johnston RB Jr, Boyle J, Curnutte J, Gallin JI, Malech HL, Holland SM, Ochs H, Quie P, Buckley RH, Foster CB, Chanock SJ, Dickler H (2000) Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore) 79(3):155–169CrossRef Winkelstein JA, Marino MC, Johnston RB Jr, Boyle J, Curnutte J, Gallin JI, Malech HL, Holland SM, Ochs H, Quie P, Buckley RH, Foster CB, Chanock SJ, Dickler H (2000) Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore) 79(3):155–169CrossRef
74.
Zurück zum Zitat Huang A, Abbasakoor F, Vaizey CJ (2006) Gastrointestinal manifestations of chronic granulomatous disease. Color Dis 8(8):637–644CrossRef Huang A, Abbasakoor F, Vaizey CJ (2006) Gastrointestinal manifestations of chronic granulomatous disease. Color Dis 8(8):637–644CrossRef
75.
Zurück zum Zitat Barton LL, Moussa SL, Villar RG, Hulett RL (1998) Gastrointestinal complications of chronic granulomatous disease: case report and literature review. Clin Pediatr (Phila) 37(4):231–236CrossRef Barton LL, Moussa SL, Villar RG, Hulett RL (1998) Gastrointestinal complications of chronic granulomatous disease: case report and literature review. Clin Pediatr (Phila) 37(4):231–236CrossRef
76.
Zurück zum Zitat Marks DJ et al (2009) Inflammatory bowel disease in CGD reproduces the clinicopathological features of Crohn’s disease. Am J Gastroenterol 104(1):117–124PubMedCrossRef Marks DJ et al (2009) Inflammatory bowel disease in CGD reproduces the clinicopathological features of Crohn’s disease. Am J Gastroenterol 104(1):117–124PubMedCrossRef
77.
Zurück zum Zitat Mulholland MW, Delaney JP, Simmons RL (1983) Gastrointestinal complications of chronic granulomatous disease: surgical implications. Surgery 94(4):569–575PubMed Mulholland MW, Delaney JP, Simmons RL (1983) Gastrointestinal complications of chronic granulomatous disease: surgical implications. Surgery 94(4):569–575PubMed
78.
Zurück zum Zitat Alimchandani M, Lai JP, Aung PP, Khangura S, Kamal N, Gallin JI, Holland SM, Malech HL, Heller T, Miettinen M, Quezado MM (2013) Gastrointestinal histopathology in chronic granulomatous disease: a study of 87 patients. Am J Surg Pathol 37(9):1365–1372PubMedPubMedCentralCrossRef Alimchandani M, Lai JP, Aung PP, Khangura S, Kamal N, Gallin JI, Holland SM, Malech HL, Heller T, Miettinen M, Quezado MM (2013) Gastrointestinal histopathology in chronic granulomatous disease: a study of 87 patients. Am J Surg Pathol 37(9):1365–1372PubMedPubMedCentralCrossRef
79.
Zurück zum Zitat Yu JE, de Ravin SS, Uzel G, Landers C, Targan S, Malech HL, Holland SM, Cao W, Harpaz N, Mayer L, Cunningham-Rundles C (2011) High levels of Crohn’s disease-associated anti-microbial antibodies are present and independent of colitis in chronic granulomatous disease. Clin Immunol 138(1):14–22PubMedCrossRef Yu JE, de Ravin SS, Uzel G, Landers C, Targan S, Malech HL, Holland SM, Cao W, Harpaz N, Mayer L, Cunningham-Rundles C (2011) High levels of Crohn’s disease-associated anti-microbial antibodies are present and independent of colitis in chronic granulomatous disease. Clin Immunol 138(1):14–22PubMedCrossRef
80.
Zurück zum Zitat Uzzan M, Ko HM, Mehandru S, Cunningham-Rundles C (2016) Gastrointestinal disorders associated with common variable immune deficiency (CVID) and chronic granulomatous disease (CGD). Curr Gastroenterol Rep 18(4):17PubMedPubMedCentralCrossRef Uzzan M, Ko HM, Mehandru S, Cunningham-Rundles C (2016) Gastrointestinal disorders associated with common variable immune deficiency (CVID) and chronic granulomatous disease (CGD). Curr Gastroenterol Rep 18(4):17PubMedPubMedCentralCrossRef
81.
Zurück zum Zitat Rieber N et al (2012) Current concepts of hyperinflammation in chronic granulomatous disease. Clin Dev Immunol 2012:252460PubMedCrossRef Rieber N et al (2012) Current concepts of hyperinflammation in chronic granulomatous disease. Clin Dev Immunol 2012:252460PubMedCrossRef
82.
Zurück zum Zitat Meissner F, Seger RA, Moshous D, Fischer A, Reichenbach J, Zychlinsky A (2010) Inflammasome activation in NADPH oxidase defective mononuclear phagocytes from patients with chronic granulomatous disease. Blood 116(9):1570–1573PubMedPubMedCentralCrossRef Meissner F, Seger RA, Moshous D, Fischer A, Reichenbach J, Zychlinsky A (2010) Inflammasome activation in NADPH oxidase defective mononuclear phagocytes from patients with chronic granulomatous disease. Blood 116(9):1570–1573PubMedPubMedCentralCrossRef
83.
Zurück zum Zitat Kuijpers T, Lutter R (2012) Inflammation and repeated infections in CGD: two sides of a coin. Cell Mol Life Sci 69(1):7–15PubMedCrossRef Kuijpers T, Lutter R (2012) Inflammation and repeated infections in CGD: two sides of a coin. Cell Mol Life Sci 69(1):7–15PubMedCrossRef
84.
Zurück zum Zitat Crowley CA, Curnutte JT, Rosin RE, André-Schwartz J, Gallin JI, Klempner M, Snyderman R, Southwick FS, Stossel TP, Babior BM (1980) An inherited abnormality of neutrophil adhesion. Its genetic transmission and its association with a missing protein. N Engl J Med 302(21):1163–1168PubMedCrossRef Crowley CA, Curnutte JT, Rosin RE, André-Schwartz J, Gallin JI, Klempner M, Snyderman R, Southwick FS, Stossel TP, Babior BM (1980) An inherited abnormality of neutrophil adhesion. Its genetic transmission and its association with a missing protein. N Engl J Med 302(21):1163–1168PubMedCrossRef
85.
Zurück zum Zitat Arnaout MA (1990) Leukocyte adhesion molecules deficiency: its structural basis, pathophysiology and implications for modulating the inflammatory response. Immunol Rev 114:145–180PubMedCrossRef Arnaout MA (1990) Leukocyte adhesion molecules deficiency: its structural basis, pathophysiology and implications for modulating the inflammatory response. Immunol Rev 114:145–180PubMedCrossRef
86.
87.
Zurück zum Zitat Movahedi M, Entezari N, Pourpak Z, Mamishi S, Chavoshzadeh Z, Gharagozlou M, Mir-Saeeid-Ghazi B, Fazlollahi MR, Zandieh F, Bemanian MH, Farhoudi A, Aghamohammadi A (2007) Clinical and laboratory findings in Iranian patients with leukocyte adhesion deficiency (study of 15 cases). J Clin Immunol 27(3):302–307PubMedCrossRef Movahedi M, Entezari N, Pourpak Z, Mamishi S, Chavoshzadeh Z, Gharagozlou M, Mir-Saeeid-Ghazi B, Fazlollahi MR, Zandieh F, Bemanian MH, Farhoudi A, Aghamohammadi A (2007) Clinical and laboratory findings in Iranian patients with leukocyte adhesion deficiency (study of 15 cases). J Clin Immunol 27(3):302–307PubMedCrossRef
88.
Zurück zum Zitat Jain S, Gozdziak P, Morgan A, Burt RK (2013) Remission of Crohn’s disease after cord blood transplantation for leukocyte adhesion deficiency type 1. Bone Marrow Transplant 48(7):1006–1007PubMedCrossRef Jain S, Gozdziak P, Morgan A, Burt RK (2013) Remission of Crohn’s disease after cord blood transplantation for leukocyte adhesion deficiency type 1. Bone Marrow Transplant 48(7):1006–1007PubMedCrossRef
89.
Zurück zum Zitat Jain AK, Motil KJ, Abramson SL, Han YS, Tatevian N (2010) Rectal ulcer with an elusive diagnosis: all that ulcers is not Crohn disease. J Pediatr Gastroenterol Nutr 51(3):367–369PubMedCrossRef Jain AK, Motil KJ, Abramson SL, Han YS, Tatevian N (2010) Rectal ulcer with an elusive diagnosis: all that ulcers is not Crohn disease. J Pediatr Gastroenterol Nutr 51(3):367–369PubMedCrossRef
90.
91.
Zurück zum Zitat Uzel G, Kleiner DE, Kuhns DB, Holland SM (2001) Dysfunctional LAD-1 neutrophils and colitis. Gastroenterology 121(4):958–964PubMedCrossRef Uzel G, Kleiner DE, Kuhns DB, Holland SM (2001) Dysfunctional LAD-1 neutrophils and colitis. Gastroenterology 121(4):958–964PubMedCrossRef
92.
Zurück zum Zitat Boztug K, Appaswamy G, Ashikov A, Schäffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanné-Chantelot C, Rezaei N, Mönkemöller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C (2009) A novel syndrome with congenital neutropenia caused by mutations in G6PC3. N Engl J Med 360(1):32–43PubMedPubMedCentralCrossRef Boztug K, Appaswamy G, Ashikov A, Schäffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanné-Chantelot C, Rezaei N, Mönkemöller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C (2009) A novel syndrome with congenital neutropenia caused by mutations in G6PC3. N Engl J Med 360(1):32–43PubMedPubMedCentralCrossRef
93.
Zurück zum Zitat Kaya Z et al (2014) Resolution of inflammatory colitis with pegfilgrastim treatment in a case of severe congenital neutropenia due to glucose 6 phosphatase catalytic subunit-3 deficiency. J pediatr Hem Onc 36(5):e316-e318 Kaya Z et al (2014) Resolution of inflammatory colitis with pegfilgrastim treatment in a case of severe congenital neutropenia due to glucose 6 phosphatase catalytic subunit-3 deficiency. J pediatr Hem Onc 36(5):e316-e318
94.
Zurück zum Zitat Desplantes C et al (2014) Clinic spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry. Orphanet J Rare Dis 183(9):1–15 Desplantes C et al (2014) Clinic spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry. Orphanet J Rare Dis 183(9):1–15
95.
Zurück zum Zitat Begin P et al (2013) Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency. J Clin Immunol 33(3):520–525PubMedCrossRef Begin P et al (2013) Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency. J Clin Immunol 33(3):520–525PubMedCrossRef
96.
Zurück zum Zitat Virdis F et al (2013) Heamophagocytic lymphohistiocytosis cased by primary Epstein-Barr virus in a patient with Crohn’s disease. World J Gastrrintest Surg 5(11):306–308CrossRef Virdis F et al (2013) Heamophagocytic lymphohistiocytosis cased by primary Epstein-Barr virus in a patient with Crohn’s disease. World J Gastrrintest Surg 5(11):306–308CrossRef
97.
Zurück zum Zitat Thompson, G., PepperellD., LawrenceI., McGettiganB.D. (2017) Crohn’s disease complicated by Epstein-Barr virus-driven haemophagocytic lymphohistiocytosis successfully treated with rituximab. BMJ Case Rep Thompson, G., PepperellD., LawrenceI., McGettiganB.D. (2017) Crohn’s disease complicated by Epstein-Barr virus-driven haemophagocytic lymphohistiocytosis successfully treated with rituximab. BMJ Case Rep
98.
Zurück zum Zitat Li Y, Xia X, Zhang J, Song Z, Zhou L, Zhang Y, Huang Y, Shi Y, Quigley EM, Ding S (2015) Haemophagocyticlymphohistiocytosis in inflammatory bowel disease with virus infection. Prz Gastroenterol 10(2):78–82PubMedPubMedCentralCrossRef Li Y, Xia X, Zhang J, Song Z, Zhou L, Zhang Y, Huang Y, Shi Y, Quigley EM, Ding S (2015) Haemophagocyticlymphohistiocytosis in inflammatory bowel disease with virus infection. Prz Gastroenterol 10(2):78–82PubMedPubMedCentralCrossRef
99.
Zurück zum Zitat Speckmann C et al (2013) X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. Clin Immunol 149(1):133–141PubMedCrossRef Speckmann C et al (2013) X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. Clin Immunol 149(1):133–141PubMedCrossRef
100.
Zurück zum Zitat Henter JI, Elinder G, Ost A (1991) Diagnostic guidelines for hemophagocytic lymphohistiocytosis. The FHL Study Group of the Histiocyte Society. Semin. Oncol 18(1):29–33PubMed Henter JI, Elinder G, Ost A (1991) Diagnostic guidelines for hemophagocytic lymphohistiocytosis. The FHL Study Group of the Histiocyte Society. Semin. Oncol 18(1):29–33PubMed
101.
Zurück zum Zitat Brito-Zeron P et al (2016) Infection is the major trigger of hemophagocytic syndrome in adult patients treated with biological therapies. Semin Arthritis Rheum 45(4):391–399PubMedCrossRef Brito-Zeron P et al (2016) Infection is the major trigger of hemophagocytic syndrome in adult patients treated with biological therapies. Semin Arthritis Rheum 45(4):391–399PubMedCrossRef
102.
Zurück zum Zitat Hyams J et al (2017) Infliximab is not associated with increased risk of malignancy or hemophagocytic lymphohistiocytosis in pediatric patients with inflammatory bowel disease. Gastroenterol 152(8):1901–1914CrossRef Hyams J et al (2017) Infliximab is not associated with increased risk of malignancy or hemophagocytic lymphohistiocytosis in pediatric patients with inflammatory bowel disease. Gastroenterol 152(8):1901–1914CrossRef
103.
Zurück zum Zitat Vogel, G., et al. (2017) Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutations. JCI Insight. 2(Jul (14)): p. [Epub ahead of print] Vogel, G., et al. (2017) Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutations. JCI Insight. 2(Jul (14)): p. [Epub ahead of print]
104.
Zurück zum Zitat Speckmann C, Ehl S (2014) XIAP deficiency is a mendelian cause of late-onset IBD. Gut 63(6):1031–1032PubMedCrossRef Speckmann C, Ehl S (2014) XIAP deficiency is a mendelian cause of late-onset IBD. Gut 63(6):1031–1032PubMedCrossRef
105.
Zurück zum Zitat Aguilar C, Latour S (2015) X-linked inhibitor of apoptosis protein deficiency: more than X-linked lymphoproliferative syndrome. J Clin Immunol 35(4):331–338PubMedCrossRef Aguilar C, Latour S (2015) X-linked inhibitor of apoptosis protein deficiency: more than X-linked lymphoproliferative syndrome. J Clin Immunol 35(4):331–338PubMedCrossRef
106.
Zurück zum Zitat Pachlopnik S et al (2011) Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). Blood 117(5):1522–1529CrossRef Pachlopnik S et al (2011) Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). Blood 117(5):1522–1529CrossRef
107.
Zurück zum Zitat Nielsen OH, LaCasse EC (2017) How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease. Genet Med 19(Feb 92):133–143PubMedCrossRef Nielsen OH, LaCasse EC (2017) How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease. Genet Med 19(Feb 92):133–143PubMedCrossRef
108.
109.
110.
Zurück zum Zitat Wing K et al (2008) CTLA-4 control over Foxp3+ regulatory T cell function. Science 322(5899):271–275CrossRefPubMed Wing K et al (2008) CTLA-4 control over Foxp3+ regulatory T cell function. Science 322(5899):271–275CrossRefPubMed
111.
Zurück zum Zitat Walker L, Sansom D (2011) The emerging role of CTLA4 as a cell-extrinsic regulator of T cell responses. Nat Rev Immnol 11:852–863CrossRef Walker L, Sansom D (2011) The emerging role of CTLA4 as a cell-extrinsic regulator of T cell responses. Nat Rev Immnol 11:852–863CrossRef
112.
Zurück zum Zitat Moraes-Fontes M et al (2017) Fatal CTLA-4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation. Clin Case Rep 5(12):2066–2070PubMedPubMedCentralCrossRef Moraes-Fontes M et al (2017) Fatal CTLA-4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation. Clin Case Rep 5(12):2066–2070PubMedPubMedCentralCrossRef
113.
114.
Zurück zum Zitat Lee S et al (2016) Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4. J Allergy Clin Immunol 137(1):327–330PubMedCrossRef Lee S et al (2016) Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4. J Allergy Clin Immunol 137(1):327–330PubMedCrossRef
116.
Zurück zum Zitat Lo B et al (2015) Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science 349(6246):436–440PubMedCrossRef Lo B et al (2015) Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science 349(6246):436–440PubMedCrossRef
117.
Zurück zum Zitat Gamez-Diaz L et al (2016) The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. J Allergy Clin Immunol 137(1):223–230PubMedCrossRef Gamez-Diaz L et al (2016) The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. J Allergy Clin Immunol 137(1):223–230PubMedCrossRef
118.
Zurück zum Zitat Fu X (2006) STAT3 in immune responses and inflammatory bowel disease. Cell Res 16(2):214–219PubMedCrossRef Fu X (2006) STAT3 in immune responses and inflammatory bowel disease. Cell Res 16(2):214–219PubMedCrossRef
119.
Zurück zum Zitat Haapaniemi E et al (2015) Autoimmunity, hypogammaglobulinema, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3. Blood 125(4):639–648PubMedCrossRefPubMedCentral Haapaniemi E et al (2015) Autoimmunity, hypogammaglobulinema, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3. Blood 125(4):639–648PubMedCrossRefPubMedCentral
120.
Zurück zum Zitat Holland S et al (2007) STAT3 mutations in the hyper-IgE syndrome. NEJM 357(16):1058–1062CrossRef Holland S et al (2007) STAT3 mutations in the hyper-IgE syndrome. NEJM 357(16):1058–1062CrossRef
121.
Zurück zum Zitat Milner JD et al (2015) Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. Blood 125(4):591–599PubMedCrossRefPubMedCentral Milner JD et al (2015) Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. Blood 125(4):591–599PubMedCrossRefPubMedCentral
122.
Zurück zum Zitat Minegishi Y et al (2007) Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature 448(7157):1058–1062PubMedCrossRef Minegishi Y et al (2007) Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature 448(7157):1058–1062PubMedCrossRef
123.
Zurück zum Zitat Uzel G, Sampaio EP, Lawrence MG, Hsu AP, Hackett M, Dorsey MJ, Noel RJ, Verbsky JW, Freeman AF, Janssen E, Bonilla FA, Pechacek J, Chandrasekaran P, Browne SK, Agharahimi A, Gharib AM, Mannurita SC, Yim JJ, Gambineri E, Torgerson T, Tran DQ, Milner JD, Holland SM (2013) Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. J Allergy Clin Immunol 131(6):1611–1623PubMedCrossRefPubMedCentral Uzel G, Sampaio EP, Lawrence MG, Hsu AP, Hackett M, Dorsey MJ, Noel RJ, Verbsky JW, Freeman AF, Janssen E, Bonilla FA, Pechacek J, Chandrasekaran P, Browne SK, Agharahimi A, Gharib AM, Mannurita SC, Yim JJ, Gambineri E, Torgerson T, Tran DQ, Milner JD, Holland SM (2013) Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. J Allergy Clin Immunol 131(6):1611–1623PubMedCrossRefPubMedCentral
124.
Zurück zum Zitat Engelhardt KR et al (2013) Clnical outcome in IL-10 and IL-10 receptor-deficient patients with or without hematopoietic cell transplantation. J Allergy Clin Immunol 131(3):825–830PubMedCrossRef Engelhardt KR et al (2013) Clnical outcome in IL-10 and IL-10 receptor-deficient patients with or without hematopoietic cell transplantation. J Allergy Clin Immunol 131(3):825–830PubMedCrossRef
125.
Zurück zum Zitat Glocker EO, Frede N, Perro M, Sebire N, Elawad M, Shah N, Grimbacher B (2010) Infant colitis—it’s in the genes. Lancet 376(9748):1272PubMedCrossRef Glocker EO, Frede N, Perro M, Sebire N, Elawad M, Shah N, Grimbacher B (2010) Infant colitis—it’s in the genes. Lancet 376(9748):1272PubMedCrossRef
126.
Zurück zum Zitat Kotlarz D, Beier R, Murugan D, Diestelhorst J, Jensen O, Boztug K, Pfeifer D, Kreipe H, Pfister E–D, Baumann U, Puchalka J, Bohne J, Egritas O, Dalgic B, Kolho K–L, Sauerbrey A, Buderus S, Güngör T, Enninger A, Koda YKL, Guariso G, Weiss B, Corbacioglu S, Socha P, Uslu N, Metin A, Wahbeh GT, Husain K, Ramadan D, al–Herz W, Grimbacher B, Sauer M, Sykora K–W, Koletzko S, Klein C (2012) Loss of interluken-10 signaling and infantile inflammatory bowel disease-implications for diagnosis and therapy. Gastroenterology 143:347–355PubMedCrossRef Kotlarz D, Beier R, Murugan D, Diestelhorst J, Jensen O, Boztug K, Pfeifer D, Kreipe H, Pfister E–D, Baumann U, Puchalka J, Bohne J, Egritas O, Dalgic B, Kolho K–L, Sauerbrey A, Buderus S, Güngör T, Enninger A, Koda YKL, Guariso G, Weiss B, Corbacioglu S, Socha P, Uslu N, Metin A, Wahbeh GT, Husain K, Ramadan D, al–Herz W, Grimbacher B, Sauer M, Sykora K–W, Koletzko S, Klein C (2012) Loss of interluken-10 signaling and infantile inflammatory bowel disease-implications for diagnosis and therapy. Gastroenterology 143:347–355PubMedCrossRef
127.
Zurück zum Zitat Mao H, Yang W, Lee PPW, Ho MHK, Yang J, Zeng S, Chong CY, Lee TL, Tu W, Lau YL (2012) Exome sequencing indentifies novel compound heterozygous mutations of IL-1 receptor 1 in neonatal onset Crohn’s disease. Genes Immun 13:437–442PubMedCrossRef Mao H, Yang W, Lee PPW, Ho MHK, Yang J, Zeng S, Chong CY, Lee TL, Tu W, Lau YL (2012) Exome sequencing indentifies novel compound heterozygous mutations of IL-1 receptor 1 in neonatal onset Crohn’s disease. Genes Immun 13:437–442PubMedCrossRef
128.
Zurück zum Zitat Salzer E, Kansu A, Sic H, Májek P, Ikincioğullari A, Dogu FE, Prengemann NK, Santos-Valente E, Pickl WF, Bilic I, Ban SA, Kuloğlu Z, Demir AM, Ensari A, Colinge J, Rizzi M, Eibel H, Boztug K (2014) Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency. J Allergy Clin Immunol 133(6):1651–1659PubMedCrossRef Salzer E, Kansu A, Sic H, Májek P, Ikincioğullari A, Dogu FE, Prengemann NK, Santos-Valente E, Pickl WF, Bilic I, Ban SA, Kuloğlu Z, Demir AM, Ensari A, Colinge J, Rizzi M, Eibel H, Boztug K (2014) Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency. J Allergy Clin Immunol 133(6):1651–1659PubMedCrossRef
129.
130.
Zurück zum Zitat Derry J, Ochs H, Francke U (1994) Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 79(5):922 Derry J, Ochs H, Francke U (1994) Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 79(5):922
131.
Zurück zum Zitat Kim A et al (2000) Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein. Nature 404:151–158PubMedCrossRef Kim A et al (2000) Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein. Nature 404:151–158PubMedCrossRef
132.
Zurück zum Zitat Jin Y, Mazza C, Christie JR, Giliani S, Fiorini M, Mella P, Gandellini F, Stewart DM, Zhu Q, Nelson DL, Notarangelo LD, Ochs HD (2004) Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood 104(13):4010–4019PubMedCrossRef Jin Y, Mazza C, Christie JR, Giliani S, Fiorini M, Mella P, Gandellini F, Stewart DM, Zhu Q, Nelson DL, Notarangelo LD, Ochs HD (2004) Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood 104(13):4010–4019PubMedCrossRef
133.
Zurück zum Zitat Devriendt K, Kim AS, Mathijs G, Frints SGM, Schwartz M, van den Oord JJ, Verhoef GEG, Boogaerts MA, Fryns JP, You D, Rosen MK, Vandenberghe P (2001) Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet 27(3):313–317PubMedCrossRef Devriendt K, Kim AS, Mathijs G, Frints SGM, Schwartz M, van den Oord JJ, Verhoef GEG, Boogaerts MA, Fryns JP, You D, Rosen MK, Vandenberghe P (2001) Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet 27(3):313–317PubMedCrossRef
134.
Zurück zum Zitat Dupuis-Girod S, Medioni J, Haddad E, Quartier P, Cavazzana-Calvo M, le Deist F, de Saint Basile G, Delaunay J, Schwarz K, Casanova JL, Blanche S, Fischer A (2003) Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features and outcome in a single center cohort of 55 patients. Pediatrics 111:e622–e627PubMedCrossRef Dupuis-Girod S, Medioni J, Haddad E, Quartier P, Cavazzana-Calvo M, le Deist F, de Saint Basile G, Delaunay J, Schwarz K, Casanova JL, Blanche S, Fischer A (2003) Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features and outcome in a single center cohort of 55 patients. Pediatrics 111:e622–e627PubMedCrossRef
135.
Zurück zum Zitat Candotti F (2018) Clinical manifestations and pathophysiological mechanisms of the Wiskott-Aldrich syndrome. J Clin Immunol 38:13–27PubMedCrossRef Candotti F (2018) Clinical manifestations and pathophysiological mechanisms of the Wiskott-Aldrich syndrome. J Clin Immunol 38:13–27PubMedCrossRef
136.
Zurück zum Zitat Ngwube, A., et al. (2017) Outcomes after allogeneic transplant in patients with Wiskott-Aldrich syndrome. Biol Blood Marrow Transplant (17): p. Epub ahead of print Ngwube, A., et al. (2017) Outcomes after allogeneic transplant in patients with Wiskott-Aldrich syndrome. Biol Blood Marrow Transplant (17): p. Epub ahead of print
137.
Zurück zum Zitat Chen N, Zhang ZY, Liu DW, Liu W, Tang XM, Zhao XD (2015) The clinical features of autoimmunity in 53 patients with Wiskott-Aldrich syndrome in China: a single-center study. Eur J Pediatr 174:1311–1318PubMedCrossRef Chen N, Zhang ZY, Liu DW, Liu W, Tang XM, Zhao XD (2015) The clinical features of autoimmunity in 53 patients with Wiskott-Aldrich syndrome in China: a single-center study. Eur J Pediatr 174:1311–1318PubMedCrossRef
138.
Zurück zum Zitat Afazali B et al (2017) BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency. Nat Immunol 18(7):813–823CrossRef Afazali B et al (2017) BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency. Nat Immunol 18(7):813–823CrossRef
139.
Zurück zum Zitat Conrad MA, Dawany N, Sullivan KE, Devoto M, Kelsen JR (2017) Novel ZBTB24 mutation associated with immunodeficiency, centromere instability, and facial anomalies type-2 syndrome identified in a patient with very early onset inflammatory bowel disease. Inflamm Bowel Dis 23(12):2252–2255PubMedCrossRef Conrad MA, Dawany N, Sullivan KE, Devoto M, Kelsen JR (2017) Novel ZBTB24 mutation associated with immunodeficiency, centromere instability, and facial anomalies type-2 syndrome identified in a patient with very early onset inflammatory bowel disease. Inflamm Bowel Dis 23(12):2252–2255PubMedCrossRef
140.
Zurück zum Zitat Boland BS, Widjaja CE, Banno A, Zhang B, Kim SH, Stoven S, Peterson MR, Jones MC, Su HI, Crowe SE, Bui JD, Ho SB, Okugawa Y, Goel A, Marietta EV, Khosroheidari M, Jepsen K, Aramburu J, López-Rodríguez C, Sandborn WJ, Murray JA, Harismendy O, Chang JT (2015) Immunodeficiency and autoimmune enterocolopathy linked to NFAT5 haploinsufficiency. J Immunol 194(6):2551–2560PubMedCrossRef Boland BS, Widjaja CE, Banno A, Zhang B, Kim SH, Stoven S, Peterson MR, Jones MC, Su HI, Crowe SE, Bui JD, Ho SB, Okugawa Y, Goel A, Marietta EV, Khosroheidari M, Jepsen K, Aramburu J, López-Rodríguez C, Sandborn WJ, Murray JA, Harismendy O, Chang JT (2015) Immunodeficiency and autoimmune enterocolopathy linked to NFAT5 haploinsufficiency. J Immunol 194(6):2551–2560PubMedCrossRef
141.
Zurück zum Zitat Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, Krohn KJE, Lalioti MD, Mullis PE, Antonarakis SE, Kawasaki K, Asakawa S, Ito F, Shimizu N (1997) Positional cloning of the APECED gene. Nat Genet 17:393–398PubMedCrossRef Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, Krohn KJE, Lalioti MD, Mullis PE, Antonarakis SE, Kawasaki K, Asakawa S, Ito F, Shimizu N (1997) Positional cloning of the APECED gene. Nat Genet 17:393–398PubMedCrossRef
142.
Zurück zum Zitat Kluger N, Jokinen M, Krohn K, Ranki A (2013) Gastrointestinal manifestations in APECED syndrome. J Clin Gastroenterol 47(2):112–120PubMedCrossRef Kluger N, Jokinen M, Krohn K, Ranki A (2013) Gastrointestinal manifestations in APECED syndrome. J Clin Gastroenterol 47(2):112–120PubMedCrossRef
143.
Zurück zum Zitat Chida N, Kobayashi I, Takezaki S, Ueki M, Yamazaki Y, Garelli S, Scarpa R, Horikawa R, Yamada M, Betterle C, Notarangelo LD, Yawaka Y, Ariga T (2015) Disease specificity of anti-tryptophan hydroxylase-1 and anti-AIE-75 autoantibodies in APECED and IPEX syndrome. Clin Immunol 156(1):36–42PubMedCrossRef Chida N, Kobayashi I, Takezaki S, Ueki M, Yamazaki Y, Garelli S, Scarpa R, Horikawa R, Yamada M, Betterle C, Notarangelo LD, Yawaka Y, Ariga T (2015) Disease specificity of anti-tryptophan hydroxylase-1 and anti-AIE-75 autoantibodies in APECED and IPEX syndrome. Clin Immunol 156(1):36–42PubMedCrossRef
144.
145.
Zurück zum Zitat Jeon M et al (2004) Essential role of the E3 ubiquitin ligase Cbl-b in T cell anergy induction. Immunity 21:167–177PubMedCrossRef Jeon M et al (2004) Essential role of the E3 ubiquitin ligase Cbl-b in T cell anergy induction. Immunity 21:167–177PubMedCrossRef
146.
Zurück zum Zitat Romberg N, al Moussawi K, Nelson-Williams C, Stiegler AL, Loring E, Choi M, Overton J, Meffre E, Khokha MK, Huttner AJ, West B, Podoltsev NA, Boggon TJ, Kazmierczak BI, Lifton RP (2014) Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nat Genet 46(10):1135–1139PubMedPubMedCentralCrossRef Romberg N, al Moussawi K, Nelson-Williams C, Stiegler AL, Loring E, Choi M, Overton J, Meffre E, Khokha MK, Huttner AJ, West B, Podoltsev NA, Boggon TJ, Kazmierczak BI, Lifton RP (2014) Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nat Genet 46(10):1135–1139PubMedPubMedCentralCrossRef
147.
Zurück zum Zitat Canna SW, Girard C, Malle L, de Jesus A, Romberg N, Kelsen J, Surrey LF, Russo P, Sleight A, Schiffrin E, Gabay C, Goldbach-Mansky R, Behrens EM (2017) Life-threatening NLRC4-associated hyperinflammation successfully treated with IL-18 inhibition. J Allergy Clin Immunol 139(5):1698–1701PubMedCrossRef Canna SW, Girard C, Malle L, de Jesus A, Romberg N, Kelsen J, Surrey LF, Russo P, Sleight A, Schiffrin E, Gabay C, Goldbach-Mansky R, Behrens EM (2017) Life-threatening NLRC4-associated hyperinflammation successfully treated with IL-18 inhibition. J Allergy Clin Immunol 139(5):1698–1701PubMedCrossRef
148.
Zurück zum Zitat Jorgensen S et al (2016) Altered gut microbiota profile in common variable immunodeficiency associates with levels of lipopolysaccharide and markers of systemic immune activation. Mucossal Immunol 9(6):1455–1465CrossRef Jorgensen S et al (2016) Altered gut microbiota profile in common variable immunodeficiency associates with levels of lipopolysaccharide and markers of systemic immune activation. Mucossal Immunol 9(6):1455–1465CrossRef
149.
Zurück zum Zitat Cordova Guevara H, Guarner Aguilar L (2009) Effective treatment of common variable immunodeficiency associated diarrhea. Rev Esp Enferm Dig 101(3):215–219PubMedCrossRef Cordova Guevara H, Guarner Aguilar L (2009) Effective treatment of common variable immunodeficiency associated diarrhea. Rev Esp Enferm Dig 101(3):215–219PubMedCrossRef
150.
Zurück zum Zitat Malamut G, Verkarre V, Suarez F, Viallard JF, Lascaux AS, Cosnes J, Bouhnik Y, Lambotte O, Béchade D, Ziol M, Lavergne A, Hermine O, Cerf-Bensussan N, Cellier C (2010) The enteropathy associated with common variable immunodeficiency: the delineated frontiers with celiac disease. Am J Gastroenterol 105(10):2262–2275PubMedCrossRef Malamut G, Verkarre V, Suarez F, Viallard JF, Lascaux AS, Cosnes J, Bouhnik Y, Lambotte O, Béchade D, Ziol M, Lavergne A, Hermine O, Cerf-Bensussan N, Cellier C (2010) The enteropathy associated with common variable immunodeficiency: the delineated frontiers with celiac disease. Am J Gastroenterol 105(10):2262–2275PubMedCrossRef
151.
Zurück zum Zitat Kralickova P, Mala E, Vokurkova D, Krcmova I, Pliskova L, Stepanova V, Bartos V, Koblizek V, Tacheci I, Bures J, Brozik J, Litzman J (2014) Cytomegalovirus disease in patients with common variable immunodeficiency: three case reports. Int Arch Allergy Immunol 163(1):69–74PubMedCrossRef Kralickova P, Mala E, Vokurkova D, Krcmova I, Pliskova L, Stepanova V, Bartos V, Koblizek V, Tacheci I, Bures J, Brozik J, Litzman J (2014) Cytomegalovirus disease in patients with common variable immunodeficiency: three case reports. Int Arch Allergy Immunol 163(1):69–74PubMedCrossRef
152.
Zurück zum Zitat Salcedo J, Keates S, Pothoulakis C, Warny M, Castagliuolo I, LaMont JT, Kelly CP (1997) Intravenous immunoglobulin therapy for severe Clostridium difficile colitis. Gut 41(3):366–370PubMedPubMedCentralCrossRef Salcedo J, Keates S, Pothoulakis C, Warny M, Castagliuolo I, LaMont JT, Kelly CP (1997) Intravenous immunoglobulin therapy for severe Clostridium difficile colitis. Gut 41(3):366–370PubMedPubMedCentralCrossRef
153.
Zurück zum Zitat Woodward JM, Gkrania-Klotsas E, Cordero-Ng AYK, Aravinthan A, Bandoh BN, Liu H, Davies S, Zhang H, Stevenson P, Curran MD, Kumararatne D (2015) The role of chronic norovirus infection in the enteropathy associated with common variable immunodeficiency. Am J Gastroenterol 110(2):320–327PubMedCrossRef Woodward JM, Gkrania-Klotsas E, Cordero-Ng AYK, Aravinthan A, Bandoh BN, Liu H, Davies S, Zhang H, Stevenson P, Curran MD, Kumararatne D (2015) The role of chronic norovirus infection in the enteropathy associated with common variable immunodeficiency. Am J Gastroenterol 110(2):320–327PubMedCrossRef
154.
Zurück zum Zitat van de Ven AA et al (2014) Increased prevalence of gastrointestinal viruses and diminished secretory immunoglobulin a levels in antibody deficiencies. J Clin Immunol 34(8):962–970PubMedCrossRef van de Ven AA et al (2014) Increased prevalence of gastrointestinal viruses and diminished secretory immunoglobulin a levels in antibody deficiencies. J Clin Immunol 34(8):962–970PubMedCrossRef
155.
Zurück zum Zitat Fabre A et al (2014) Syndrome (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome. Arch Dis Child 99(1):35–38PubMedCrossRef Fabre A et al (2014) Syndrome (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome. Arch Dis Child 99(1):35–38PubMedCrossRef
156.
Zurück zum Zitat Girault D et al (1994) Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency. J Pediatr 125(1):36–42PubMedCrossRef Girault D et al (1994) Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency. J Pediatr 125(1):36–42PubMedCrossRef
157.
Zurück zum Zitat Hartley J et al (2010) Mutations in TTC37 cause tricohepatoenteric syndrome (phenotypic diarrhea of infancy). Gastroenterology 138(7):2388–2398PubMedCrossRef Hartley J et al (2010) Mutations in TTC37 cause tricohepatoenteric syndrome (phenotypic diarrhea of infancy). Gastroenterology 138(7):2388–2398PubMedCrossRef
159.
Zurück zum Zitat Stepensky P et al (2013) Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohystiocytosis type 5 due to STXBP2/MUNC18-2 mutations. Pediatr Blood Cancer 60(7):1215–1222PubMedCrossRef Stepensky P et al (2013) Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohystiocytosis type 5 due to STXBP2/MUNC18-2 mutations. Pediatr Blood Cancer 60(7):1215–1222PubMedCrossRef
160.
Zurück zum Zitat Pagel J et al (2010) Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5). Blood 119(25):6016–6024CrossRef Pagel J et al (2010) Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5). Blood 119(25):6016–6024CrossRef
161.
Zurück zum Zitat de la Morena MT, Leonard D, Torgerson TR, Cabral-Marques O, Slatter M, Aghamohammadi A, Chandra S, Murguia-Favela L, Bonilla FA, Kanariou M, Damrongwatanasuk R, Kuo CY, Dvorak CC, Meyts I, Chen K, Kobrynski L, Kapoor N, Richter D, DiGiovanni D, Dhalla F, Farmaki E, Speckmann C, Español T, Shcherbina A, Hanson IC, Litzman J, Routes JM, Wong M, Fuleihan R, Seneviratne SL, Small TN, Janda A, Bezrodnik L, Seger R, Raccio AG, Edgar JDM, Chou J, Abbott JK, van Montfrans J, González-Granado LI, Bunin N, Kutukculer N, Gray P, Seminario G, Pasic S, Aquino V, Wysocki C, Abolhassani H, Dorsey M, Cunningham-Rundles C, Knutsen AP, Sleasman J, Costa Carvalho BT, Condino-Neto A, Grunebaum E, Chapel H, Ochs HD, Filipovich A, Cowan M, Gennery A, Cant A, Notarangelo LD, Roifman CM (2017) Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation. J Allergy Clin Immunol 139(4):1282–1292PubMedCrossRef de la Morena MT, Leonard D, Torgerson TR, Cabral-Marques O, Slatter M, Aghamohammadi A, Chandra S, Murguia-Favela L, Bonilla FA, Kanariou M, Damrongwatanasuk R, Kuo CY, Dvorak CC, Meyts I, Chen K, Kobrynski L, Kapoor N, Richter D, DiGiovanni D, Dhalla F, Farmaki E, Speckmann C, Español T, Shcherbina A, Hanson IC, Litzman J, Routes JM, Wong M, Fuleihan R, Seneviratne SL, Small TN, Janda A, Bezrodnik L, Seger R, Raccio AG, Edgar JDM, Chou J, Abbott JK, van Montfrans J, González-Granado LI, Bunin N, Kutukculer N, Gray P, Seminario G, Pasic S, Aquino V, Wysocki C, Abolhassani H, Dorsey M, Cunningham-Rundles C, Knutsen AP, Sleasman J, Costa Carvalho BT, Condino-Neto A, Grunebaum E, Chapel H, Ochs HD, Filipovich A, Cowan M, Gennery A, Cant A, Notarangelo LD, Roifman CM (2017) Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation. J Allergy Clin Immunol 139(4):1282–1292PubMedCrossRef
162.
Zurück zum Zitat Albuquerque A (2014) Nodular lymphoid hyperplasia in the gastrointestinal tract in adult patients: a review. World J Gastroenterol 6(11):534–540 Albuquerque A (2014) Nodular lymphoid hyperplasia in the gastrointestinal tract in adult patients: a review. World J Gastroenterol 6(11):534–540
163.
Zurück zum Zitat Ranchod M, Lewkin K, Dorfman R (1978) Lymphoid hyperplasia of the gastrointestinal tract.A study of 26 cases and review of the literature. Am J Surg Pathol 2:383–400PubMedCrossRef Ranchod M, Lewkin K, Dorfman R (1978) Lymphoid hyperplasia of the gastrointestinal tract.A study of 26 cases and review of the literature. Am J Surg Pathol 2:383–400PubMedCrossRef
164.
Zurück zum Zitat Colon A, DiPalma J, Leftridge C (1991) Intestinal lympho-nodular hyperplasia of childhood: patterns of presentation. J Clin Gastroenterol 13:163–166PubMedCrossRef Colon A, DiPalma J, Leftridge C (1991) Intestinal lympho-nodular hyperplasia of childhood: patterns of presentation. J Clin Gastroenterol 13:163–166PubMedCrossRef
165.
Zurück zum Zitat Rambaud J et al (1982) Diffuse follicular lymphoid hyperplasia of the small intestine without primary antibody deficiency. Am J Med 73:125–132PubMedCrossRef Rambaud J et al (1982) Diffuse follicular lymphoid hyperplasia of the small intestine without primary antibody deficiency. Am J Med 73:125–132PubMedCrossRef
166.
Zurück zum Zitat Joo M, Shim SH, Chang SH, Kim H, Chi JG, Kim NH (2009) Nodular lymphoid hyperplasia and histologic changes mimicking celiac disease, collagenous sprue, and lymphocytic colitis in a patient with selective IgA deficiency. Pathol Res Pract 205(12):876–880PubMedCrossRef Joo M, Shim SH, Chang SH, Kim H, Chi JG, Kim NH (2009) Nodular lymphoid hyperplasia and histologic changes mimicking celiac disease, collagenous sprue, and lymphocytic colitis in a patient with selective IgA deficiency. Pathol Res Pract 205(12):876–880PubMedCrossRef
167.
Zurück zum Zitat Schwartz D, Cole CE, Sun Y, Jacoby RF (2003) Diffuse nodular lymphoid hyperplasia of the colon: polyposis syndrome or normal variant? Gastrointest Endosc 58:630–632PubMed Schwartz D, Cole CE, Sun Y, Jacoby RF (2003) Diffuse nodular lymphoid hyperplasia of the colon: polyposis syndrome or normal variant? Gastrointest Endosc 58:630–632PubMed
168.
Zurück zum Zitat Rubio-Tapia A, Hernández-Calleros J, Trinidad-Hernández S, Uscanga L (2006) Clinical characteristics of a group of adults with nodular lymphoid hyperplasia: a single center experience. World J Gastroenterol 12:1945–1948PubMedPubMedCentralCrossRef Rubio-Tapia A, Hernández-Calleros J, Trinidad-Hernández S, Uscanga L (2006) Clinical characteristics of a group of adults with nodular lymphoid hyperplasia: a single center experience. World J Gastroenterol 12:1945–1948PubMedPubMedCentralCrossRef
169.
Zurück zum Zitat Hermans P et al (1966) Dysgammaglobulinemia associated with nodular lymphoid hyperplasia of the small intestine. Am J Med 40:78–89PubMedCrossRef Hermans P et al (1966) Dysgammaglobulinemia associated with nodular lymphoid hyperplasia of the small intestine. Am J Med 40:78–89PubMedCrossRef
170.
Zurück zum Zitat Khuroo M, Khuroo N, Khuroo M (2011) Diffuse duodenal nodular lymphoid hyperplasia: a large cohort of patients etiologically related to Helicobacter pylori infection. BMC Gastroentrol 11(36):1–11 Khuroo M, Khuroo N, Khuroo M (2011) Diffuse duodenal nodular lymphoid hyperplasia: a large cohort of patients etiologically related to Helicobacter pylori infection. BMC Gastroentrol 11(36):1–11
171.
Zurück zum Zitat Hanich T, Majnarić L, Janković D, Šabanović Š, Včev A (2017) Nodular lymphoid hyperplasia complicated with ileal Burkitt’s lymphoma in an adult patient with selective IgA deficiency. Int J Surg Case Rep 30:69–72PubMedCrossRef Hanich T, Majnarić L, Janković D, Šabanović Š, Včev A (2017) Nodular lymphoid hyperplasia complicated with ileal Burkitt’s lymphoma in an adult patient with selective IgA deficiency. Int J Surg Case Rep 30:69–72PubMedCrossRef
172.
Zurück zum Zitat Collin P, Mäki M, Keyriläinen O, Hällström O, Reunala T, Pasternack A (1992) Selective IgA deficiency and coeliac disease. Scand J Gastroenterol 27:367–371PubMedCrossRef Collin P, Mäki M, Keyriläinen O, Hällström O, Reunala T, Pasternack A (1992) Selective IgA deficiency and coeliac disease. Scand J Gastroenterol 27:367–371PubMedCrossRef
173.
Zurück zum Zitat Ouakaa-Kchaou A, Trad D, Boussourra H, Bibani N, Elloumi H, Kochlef A, Gargouri D, Kharrat J (2015) Hypogammaglobulinemia associated with nodular lymphoid hyperplasia of the intestine and pernicious anaemia. Tunis Med 93(11):662–664PubMed Ouakaa-Kchaou A, Trad D, Boussourra H, Bibani N, Elloumi H, Kochlef A, Gargouri D, Kharrat J (2015) Hypogammaglobulinemia associated with nodular lymphoid hyperplasia of the intestine and pernicious anaemia. Tunis Med 93(11):662–664PubMed
174.
Zurück zum Zitat Webster AD, Kenwright S, Ballard J, Shiner M, Slavin G, Levi AJ, Loewi G, Asherson GL (1977) Nodular lymphoid hyperplasia of the bowel in primary hypogammaglobulinaemia: study of in vivo and in vitro lymphocyte function. Gut 18(5):364–372PubMedPubMedCentralCrossRef Webster AD, Kenwright S, Ballard J, Shiner M, Slavin G, Levi AJ, Loewi G, Asherson GL (1977) Nodular lymphoid hyperplasia of the bowel in primary hypogammaglobulinaemia: study of in vivo and in vitro lymphocyte function. Gut 18(5):364–372PubMedPubMedCentralCrossRef
175.
Zurück zum Zitat Bayraktar Y, Ersoy O, Sokmensuer C (2007) The findings of capsule endoscopy in patients with common variable immunodeficiency syndrome. Hepato-Gastroenterology 54(76):1034–1037PubMed Bayraktar Y, Ersoy O, Sokmensuer C (2007) The findings of capsule endoscopy in patients with common variable immunodeficiency syndrome. Hepato-Gastroenterology 54(76):1034–1037PubMed
176.
Zurück zum Zitat Van den Brande P et al (1988) Intestinal nodular lymphoid hyperplasia in patients with common variable immunodeficiency: local accumulation of B and CD8(+) lymphocytes. J Clin Immunol 8(4):296–306PubMedCrossRef Van den Brande P et al (1988) Intestinal nodular lymphoid hyperplasia in patients with common variable immunodeficiency: local accumulation of B and CD8(+) lymphocytes. J Clin Immunol 8(4):296–306PubMedCrossRef
177.
Zurück zum Zitat Rodrigues F, Graham Davies E, Harrison P, McLauchlin J, Karani J, Portmann B, Jones A, Veys P, Mieli-Vergani G, Hadžić N (2004) Liver disease in children with primary immunodeficiencies. J Pediatr 145(3):333–339PubMedCrossRef Rodrigues F, Graham Davies E, Harrison P, McLauchlin J, Karani J, Portmann B, Jones A, Veys P, Mieli-Vergani G, Hadžić N (2004) Liver disease in children with primary immunodeficiencies. J Pediatr 145(3):333–339PubMedCrossRef
178.
Zurück zum Zitat van den Berge J et al (2009) Chronic granulomatous disease:the European experience. PLoS One 4(4):e5234CrossRef van den Berge J et al (2009) Chronic granulomatous disease:the European experience. PLoS One 4(4):e5234CrossRef
179.
Zurück zum Zitat Hussain N et al (2007) Hepatic abnormalities in patients with chronic granulomatous disease. Hepatology 45(3):675–683PubMedCrossRef Hussain N et al (2007) Hepatic abnormalities in patients with chronic granulomatous disease. Hepatology 45(3):675–683PubMedCrossRef
180.
Zurück zum Zitat Levy J, Espanol-Boren T, Thomas C, Fischer A, Tovo P, Bordigoni P, Resnick I, Fasth A, Baer M, Gomez L, Sanders EAM, Tabone MD, Plantaz D, Etzioni A, Monafo V, Abinun M, Hammarstrom L, Abrahamsen T, Jones A, Finn A, Klemola T, DeVries E, Sanal O, Peitsch MC, Notarangelo LD (1997) Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr 131(1 Pt 1):47–54PubMedCrossRef Levy J, Espanol-Boren T, Thomas C, Fischer A, Tovo P, Bordigoni P, Resnick I, Fasth A, Baer M, Gomez L, Sanders EAM, Tabone MD, Plantaz D, Etzioni A, Monafo V, Abinun M, Hammarstrom L, Abrahamsen T, Jones A, Finn A, Klemola T, DeVries E, Sanal O, Peitsch MC, Notarangelo LD (1997) Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr 131(1 Pt 1):47–54PubMedCrossRef
181.
Zurück zum Zitat Durandy A et al (2013) Potential roles of activation-induced cytidine deaminase in promotion or prevention of autoimmunity in humans. Autoimmunity 46(2):148–156PubMedPubMedCentralCrossRef Durandy A et al (2013) Potential roles of activation-induced cytidine deaminase in promotion or prevention of autoimmunity in humans. Autoimmunity 46(2):148–156PubMedPubMedCentralCrossRef
182.
Zurück zum Zitat de Pontual L et al (2007) Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschprung disease. Hum Mutat 28(8):790–796PubMedCrossRef de Pontual L et al (2007) Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschprung disease. Hum Mutat 28(8):790–796PubMedCrossRef
183.
Zurück zum Zitat Makitie O et al (2002) Hirschprung’s disease in cartilage-hairhypoplasia has poor prognosis. J Pediatr Surg 37(11):1585–1588PubMedCrossRef Makitie O et al (2002) Hirschprung’s disease in cartilage-hairhypoplasia has poor prognosis. J Pediatr Surg 37(11):1585–1588PubMedCrossRef
184.
Zurück zum Zitat Digilio MC, Marino B, Bagolan P, Giannotti A, Dallapiccola B (1999) Microdeletion 22q11 and oesophageal atresia. J Med Genet 36(2):137–139PubMedPubMedCentral Digilio MC, Marino B, Bagolan P, Giannotti A, Dallapiccola B (1999) Microdeletion 22q11 and oesophageal atresia. J Med Genet 36(2):137–139PubMedPubMedCentral
185.
Zurück zum Zitat Arora M, Bagi P, Strongin A, Heimall J, Zhao X, Lawrence MG, Trivedi A, Henderson C, Hsu A, Quezado M, Kleiner DE, Venkatesan AM, Holland SM, Freeman AF, Heller T (2017) Gastrointestinal manifestations of STAT3-deficient hyper-IgE syndrome. J Clin Immunol 37(7):695–700PubMedCrossRefPubMedCentral Arora M, Bagi P, Strongin A, Heimall J, Zhao X, Lawrence MG, Trivedi A, Henderson C, Hsu A, Quezado M, Kleiner DE, Venkatesan AM, Holland SM, Freeman AF, Heller T (2017) Gastrointestinal manifestations of STAT3-deficient hyper-IgE syndrome. J Clin Immunol 37(7):695–700PubMedCrossRefPubMedCentral
186.
Zurück zum Zitat Chen R et al (2013) Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. J Allergy Clin Immunol 132(3):656–664 e17PubMedPubMedCentralCrossRef Chen R et al (2013) Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. J Allergy Clin Immunol 132(3):656–664 e17PubMedPubMedCentralCrossRef
187.
Zurück zum Zitat Samuels ME, Majewski J, Alirezaie N, Fernandez I, Casals F, Patey N, Decaluwe H, Gosselin I, Haddad E, Hodgkinson A, Idaghdour Y, Marchand V, Michaud JL, Rodrigue MA, Desjardins S, Dubois S, le Deist F, Awadalla P, Raymond V, Maranda B (2013) Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. J Med Genet 50(5):324–329PubMedCrossRef Samuels ME, Majewski J, Alirezaie N, Fernandez I, Casals F, Patey N, Decaluwe H, Gosselin I, Haddad E, Hodgkinson A, Idaghdour Y, Marchand V, Michaud JL, Rodrigue MA, Desjardins S, Dubois S, le Deist F, Awadalla P, Raymond V, Maranda B (2013) Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. J Med Genet 50(5):324–329PubMedCrossRef
188.
Zurück zum Zitat Guttman FM, Braun P, Garance PH, Blanchard H, Collin PP, Dallaire L, Desjardins JG, Perreault G (1973) Multiple atresias and a new syndrome of hereditary multiple atresias involving the gastrointestinal tract from stomach to rectum. J Pediatr Surg 8(5):633–640PubMedCrossRef Guttman FM, Braun P, Garance PH, Blanchard H, Collin PP, Dallaire L, Desjardins JG, Perreault G (1973) Multiple atresias and a new syndrome of hereditary multiple atresias involving the gastrointestinal tract from stomach to rectum. J Pediatr Surg 8(5):633–640PubMedCrossRef
189.
Zurück zum Zitat Mishalany HG, Der Kaloustian VM (1971) Familial multiple-level intestinal atresias: report of two siblings. J Pediatr 79(1):124–125PubMedCrossRef Mishalany HG, Der Kaloustian VM (1971) Familial multiple-level intestinal atresias: report of two siblings. J Pediatr 79(1):124–125PubMedCrossRef
190.
Zurück zum Zitat Moreno LA, Gottrand F, Turck D, Manouvrier-Hanu S, Mazingue F, Morisot C, le Deist F, Ricour C, Nihoul-Feketé C, Debeugny P, Griscelli C, Farriaux JP (1990) Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a family. Am J Med Genet 37(1):143–146PubMedCrossRef Moreno LA, Gottrand F, Turck D, Manouvrier-Hanu S, Mazingue F, Morisot C, le Deist F, Ricour C, Nihoul-Feketé C, Debeugny P, Griscelli C, Farriaux JP (1990) Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a family. Am J Med Genet 37(1):143–146PubMedCrossRef
191.
Zurück zum Zitat Rothenberg ME, White FV, Chilmonczyk B, Chatila T (1995) A syndrome involving immunodeficiency and multiple intestinal atresias. Immunodeficiency 5(3):171–178PubMed Rothenberg ME, White FV, Chilmonczyk B, Chatila T (1995) A syndrome involving immunodeficiency and multiple intestinal atresias. Immunodeficiency 5(3):171–178PubMed
192.
Zurück zum Zitat Ali, Y.A., et al. (2011) Hereditary multiple intestinal atresia (HMIA) with severe combined immunodeficiency (SCID): a case report of two siblings and review of the literature on MIA, HMIA and HMIA with immunodeficiency over the last 50 years. BMJ Case Rep 2011 Ali, Y.A., et al. (2011) Hereditary multiple intestinal atresia (HMIA) with severe combined immunodeficiency (SCID): a case report of two siblings and review of the literature on MIA, HMIA and HMIA with immunodeficiency over the last 50 years. BMJ Case Rep 2011
193.
Zurück zum Zitat Lavilla P et al (1993) X-lined agammaglobulinemia and gastric adenocarcinoma. Cancer 72(5):1528–1531PubMedCrossRef Lavilla P et al (1993) X-lined agammaglobulinemia and gastric adenocarcinoma. Cancer 72(5):1528–1531PubMedCrossRef
194.
Zurück zum Zitat Page A, Hansen A, Good R (1963) Occurrence of leukemia and lymphoma in patients with agammaglobulinemia. Blood 21(2):197–206PubMedCrossRef Page A, Hansen A, Good R (1963) Occurrence of leukemia and lymphoma in patients with agammaglobulinemia. Blood 21(2):197–206PubMedCrossRef
195.
Zurück zum Zitat Mortaz E et al (2016) Cancers related to immunodeficiencies: update and perspectives. Front Immunol 7:1–13CrossRef Mortaz E et al (2016) Cancers related to immunodeficiencies: update and perspectives. Front Immunol 7:1–13CrossRef
196.
Zurück zum Zitat Agarwal S, Mayer L (2009) Pathogenesis and treatment of gastrointestinal disese in antibody deficiency syndromes. J Allergy Clin Immunol 124(4):658–664PubMedCrossRef Agarwal S, Mayer L (2009) Pathogenesis and treatment of gastrointestinal disese in antibody deficiency syndromes. J Allergy Clin Immunol 124(4):658–664PubMedCrossRef
197.
Zurück zum Zitat Conley ME, Ziegler MM, IV SB, Huff DS, Boyle JT (1988) Multifocal adenocarcinoma of the stomach in a child with common variable immunodeficiency. J Pediatr Gastroenterol Nutr 7(3):456–460PubMedCrossRef Conley ME, Ziegler MM, IV SB, Huff DS, Boyle JT (1988) Multifocal adenocarcinoma of the stomach in a child with common variable immunodeficiency. J Pediatr Gastroenterol Nutr 7(3):456–460PubMedCrossRef
198.
Zurück zum Zitat van der Meer J et al (1993) Colorectal cancer in patients with X-linked agammaglobulinemia. Lancet 341:1439–1440PubMedCrossRef van der Meer J et al (1993) Colorectal cancer in patients with X-linked agammaglobulinemia. Lancet 341:1439–1440PubMedCrossRef
199.
Zurück zum Zitat Levin E et al (2016) Hyper IgM syndrome: a report from the USIDNET Registry. J Clin Immunol 36:490–501CrossRef Levin E et al (2016) Hyper IgM syndrome: a report from the USIDNET Registry. J Clin Immunol 36:490–501CrossRef
200.
Zurück zum Zitat Donaldson GP, Lee SM, Mazmanian SK (2016) Gut biogeography of the bacterial microbiota. Nat Rev Microbiol 14(1):20–32PubMedCrossRef Donaldson GP, Lee SM, Mazmanian SK (2016) Gut biogeography of the bacterial microbiota. Nat Rev Microbiol 14(1):20–32PubMedCrossRef
201.
Zurück zum Zitat Lamers CB et al (1980) Jejunal lymphoma in a patient with primary adult-onset hypogammaglobulinemia and nodular lymphoid hyperplasia of the small intestine. Dig Dis Sci 25(7):553–557PubMedCrossRef Lamers CB et al (1980) Jejunal lymphoma in a patient with primary adult-onset hypogammaglobulinemia and nodular lymphoid hyperplasia of the small intestine. Dig Dis Sci 25(7):553–557PubMedCrossRef
202.
Zurück zum Zitat Casetellano G et al (1992) Malignant lymphoma of jejunum with common variable hypogammaglobulinemia and diffuse nodular lymphoid hyperplasia of the small intestine. A case study and literature review. J Clin Gastroenterol 15(2):128–135CrossRef Casetellano G et al (1992) Malignant lymphoma of jejunum with common variable hypogammaglobulinemia and diffuse nodular lymphoid hyperplasia of the small intestine. A case study and literature review. J Clin Gastroenterol 15(2):128–135CrossRef
203.
Zurück zum Zitat Eckburg PB, Bik EM, Bernstein CN, Purdom E, Dethlefsen L, Sargent M, Gill SR, Nelson KE, Relman DA (2005) Diversity of the human intestinal microbial flora. Science 308(5728):1635–1638PubMedCrossRefPubMedCentral Eckburg PB, Bik EM, Bernstein CN, Purdom E, Dethlefsen L, Sargent M, Gill SR, Nelson KE, Relman DA (2005) Diversity of the human intestinal microbial flora. Science 308(5728):1635–1638PubMedCrossRefPubMedCentral
204.
Zurück zum Zitat Cummings JH, Pomare EW, Branch WJ, Naylor CP, Macfarlane GT (1987) Short chain fatty acids in human large intestine, portal, hepatic and venous blood. Gut 28(10):1221–1227PubMedCrossRefPubMedCentral Cummings JH, Pomare EW, Branch WJ, Naylor CP, Macfarlane GT (1987) Short chain fatty acids in human large intestine, portal, hepatic and venous blood. Gut 28(10):1221–1227PubMedCrossRefPubMedCentral
205.
Zurück zum Zitat Furusawa Y, Obata Y, Fukuda S, Endo TA, Nakato G, Takahashi D, Nakanishi Y, Uetake C, Kato K, Kato T, Takahashi M, Fukuda NN, Murakami S, Miyauchi E, Hino S, Atarashi K, Onawa S, Fujimura Y, Lockett T, Clarke JM, Topping DL, Tomita M, Hori S, Ohara O, Morita T, Koseki H, Kikuchi J, Honda K, Hase K, Ohno H (2013) Commensal microbe-derived butyrate induces the differentiation of colonic regulatory T cells. Nature 504(7480):446–450PubMedCrossRef Furusawa Y, Obata Y, Fukuda S, Endo TA, Nakato G, Takahashi D, Nakanishi Y, Uetake C, Kato K, Kato T, Takahashi M, Fukuda NN, Murakami S, Miyauchi E, Hino S, Atarashi K, Onawa S, Fujimura Y, Lockett T, Clarke JM, Topping DL, Tomita M, Hori S, Ohara O, Morita T, Koseki H, Kikuchi J, Honda K, Hase K, Ohno H (2013) Commensal microbe-derived butyrate induces the differentiation of colonic regulatory T cells. Nature 504(7480):446–450PubMedCrossRef
206.
Zurück zum Zitat Arpaia N, Campbell C, Fan X, Dikiy S, van der Veeken J, deRoos P, Liu H, Cross JR, Pfeffer K, Coffer PJ, Rudensky AY (2013) Metabolites produced by commensal bacteria promote peripheral regulatory T-cell generation. Nature 504(7480):451–455PubMedPubMedCentralCrossRef Arpaia N, Campbell C, Fan X, Dikiy S, van der Veeken J, deRoos P, Liu H, Cross JR, Pfeffer K, Coffer PJ, Rudensky AY (2013) Metabolites produced by commensal bacteria promote peripheral regulatory T-cell generation. Nature 504(7480):451–455PubMedPubMedCentralCrossRef
208.
Zurück zum Zitat Thorburn AN, McKenzie CI, Shen S, Stanley D, Macia L, Mason LJ, Roberts LK, Wong CHY, Shim R, Robert R, Chevalier N, Tan JK, Mariño E, Moore RJ, Wong L, McConville MJ, Tull DL, Wood LG, Murphy VE, Mattes J, Gibson PG, Mackay CR (2015) Evidence that asthma is a developmental origin disease influenced by maternal diet and bacterial metabolites. Nat Commun 6:7320PubMedCrossRef Thorburn AN, McKenzie CI, Shen S, Stanley D, Macia L, Mason LJ, Roberts LK, Wong CHY, Shim R, Robert R, Chevalier N, Tan JK, Mariño E, Moore RJ, Wong L, McConville MJ, Tull DL, Wood LG, Murphy VE, Mattes J, Gibson PG, Mackay CR (2015) Evidence that asthma is a developmental origin disease influenced by maternal diet and bacterial metabolites. Nat Commun 6:7320PubMedCrossRef
209.
Zurück zum Zitat Rider N et al (2009) Immunologic and clinical features of 25 Amish patients with RMRP 70 A→G cartilage hair hypoplasia. Clin Immunol 131(1):119–128PubMedCrossRef Rider N et al (2009) Immunologic and clinical features of 25 Amish patients with RMRP 70 A→G cartilage hair hypoplasia. Clin Immunol 131(1):119–128PubMedCrossRef
Metadaten
Titel
Gastrointestinal Disorders Associated with Primary Immunodeficiency Diseases
verfasst von
Stella Hartono
Michelina Rosa Ippoliti
Maria Mastroianni
Ricardo Torres
Nicholas L. Rider
Publikationsdatum
13.05.2018
Verlag
Springer US
Erschienen in
Clinical Reviews in Allergy & Immunology / Ausgabe 2/2019
Print ISSN: 1080-0549
Elektronische ISSN: 1559-0267
DOI
https://doi.org/10.1007/s12016-018-8689-9

Weitere Artikel der Ausgabe 2/2019

Clinical Reviews in Allergy & Immunology 2/2019 Zur Ausgabe

Ein Drittel der jungen Ärztinnen und Ärzte erwägt abzuwandern

07.05.2024 Medizinstudium Nachrichten

Extreme Arbeitsverdichtung und kaum Supervision: Dr. Andrea Martini, Sprecherin des Bündnisses Junge Ärztinnen und Ärzte (BJÄ) über den Frust des ärztlichen Nachwuchses und die Vorteile des Rucksack-Modells.

Nur selten Nachblutungen nach Abszesstonsillektomie

03.05.2024 Tonsillektomie Nachrichten

In einer Metaanalyse von 18 Studien war die Rate von Nachblutungen nach einer Abszesstonsillektomie mit weniger als 7% recht niedrig. Nur rund 2% der Behandelten mussten nachoperiert werden. Die Therapie scheint damit recht sicher zu sein.

Rezidivierender Peritonsillarabszess nach Oralsex

02.05.2024 Peritonsillarabszess Kasuistik

Die erotischen Dimensionen von Peritonsillarabszessen scheinen eng begrenzt zu sein. Das heißt aber nicht, solche Abszesse und Erotik hätten nichts miteinander gemein, wie ein Fallbericht verdeutlicht.

Endlich: Zi zeigt, mit welchen PVS Praxen zufrieden sind

IT für Ärzte Nachrichten

Darauf haben viele Praxen gewartet: Das Zi hat eine Liste von Praxisverwaltungssystemen veröffentlicht, die von Nutzern positiv bewertet werden. Eine gute Grundlage für wechselwillige Ärztinnen und Psychotherapeuten.

Update HNO

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert – ganz bequem per eMail.