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Erschienen in: Journal of Clinical Immunology 5/2018

29.06.2018 | How I Manage

The Treatment of Inflammatory Bowel Disease in Patients with Selected Primary Immunodeficiencies

verfasst von: Dror S. Shouval, Matthew Kowalik, Scott B. Snapper

Erschienen in: Journal of Clinical Immunology | Ausgabe 5/2018

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Abstract

The gastrointestinal tract is heavily populated with innate and adaptive immune cells that have an active role in preservation of mucosal homeostasis and prevention of inflammation. Inflammatory bowel diseases are thought to result from dysregulated immune function that is influenced by genetic background, environmental triggers, and microbiome changes. While most inflammatory bowel disease patients present in adolescent years or adulthood, in a minority of cases, the disease develops early in life, and in some of these young patients, a monogenic disease causing intestinal inflammation can be identified. Many of these conditions result from mutations in immune-mediated genes and can present with or without concomitant recurrent infections. In this review, we will discuss the treatment of patients with selected primary immunodeficiencies and inflammatory bowel diseases. We will focus on five conditions resulting from mutations in IL10/IL10 receptor, NADPH oxidase complex, XIAP, LRBA, and CTLA-4.
Literatur
3.
Zurück zum Zitat Maloy KJ, Powrie F. Intestinal homeostasis and its breakdown in inflammatory bowel disease. Nature. 2011;474:298–306.PubMedCrossRef Maloy KJ, Powrie F. Intestinal homeostasis and its breakdown in inflammatory bowel disease. Nature. 2011;474:298–306.PubMedCrossRef
5.
6.
Zurück zum Zitat Loftus EV Jr, Sandborn WJ. Epidemiology of inflammatory bowel disease. Gastroenterol Clin N Am. 2002;31:1–20.CrossRef Loftus EV Jr, Sandborn WJ. Epidemiology of inflammatory bowel disease. Gastroenterol Clin N Am. 2002;31:1–20.CrossRef
7.
Zurück zum Zitat Uhlig HH, Schwerd T, Koletzko S, Shah N, Kammermeier J, Elkadri A, et al. The diagnostic approach to monogenic very early onset inflammatory bowel disease. Gastroenterology. 2014;147:990–1007.e3.PubMedPubMedCentralCrossRef Uhlig HH, Schwerd T, Koletzko S, Shah N, Kammermeier J, Elkadri A, et al. The diagnostic approach to monogenic very early onset inflammatory bowel disease. Gastroenterology. 2014;147:990–1007.e3.PubMedPubMedCentralCrossRef
8.
Zurück zum Zitat Muise AM, Snapper SB, Kugathasan S. The age of gene discovery in very early onset inflammatory bowel disease. Gastroenterology. 2012;143:285–8.PubMedCrossRef Muise AM, Snapper SB, Kugathasan S. The age of gene discovery in very early onset inflammatory bowel disease. Gastroenterology. 2012;143:285–8.PubMedCrossRef
9.
Zurück zum Zitat Kammermeier J, Dziubak R, Pescarin M, et al. Phenotypic and genotypic characterisation of inflammatory bowel disease presenting before the age of 2 years. J Crohns Colitis. 2017;11(1):60–69. Kammermeier J, Dziubak R, Pescarin M, et al. Phenotypic and genotypic characterisation of inflammatory bowel disease presenting before the age of 2 years. J Crohns Colitis. 2017;11(1):60–69.
10.
Zurück zum Zitat Ruemmele FM, El Khoury MG, Talbotec C, et al. Characteristics of inflammatory bowel disease with onset during the first year of life. J Pediatr Gastroenterol Nutr. 2006;43:603–9.PubMedCrossRef Ruemmele FM, El Khoury MG, Talbotec C, et al. Characteristics of inflammatory bowel disease with onset during the first year of life. J Pediatr Gastroenterol Nutr. 2006;43:603–9.PubMedCrossRef
11.
Zurück zum Zitat Heyman MB, Kirschner BS, Gold BD, Ferry G, Baldassano R, Cohen SA, et al. Children with early-onset inflammatory bowel disease (IBD): analysis of a pediatric IBD consortium registry. J Pediatr. 2005;146:35–40.PubMedCrossRef Heyman MB, Kirschner BS, Gold BD, Ferry G, Baldassano R, Cohen SA, et al. Children with early-onset inflammatory bowel disease (IBD): analysis of a pediatric IBD consortium registry. J Pediatr. 2005;146:35–40.PubMedCrossRef
12.
Zurück zum Zitat Thapar N, Shah N, Ramsay AD, Lindley KJ, Milla PJ. Long-term outcome of intractable ulcerating enterocolitis of infancy. J Pediatr Gastroenterol Nutr. 2005;40:582–8.PubMedCrossRef Thapar N, Shah N, Ramsay AD, Lindley KJ, Milla PJ. Long-term outcome of intractable ulcerating enterocolitis of infancy. J Pediatr Gastroenterol Nutr. 2005;40:582–8.PubMedCrossRef
13.
Zurück zum Zitat Jostins L, Ripke S, Weersma RK, et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature. 2012;491:119–24.PubMedPubMedCentralCrossRef Jostins L, Ripke S, Weersma RK, et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature. 2012;491:119–24.PubMedPubMedCentralCrossRef
14.
Zurück zum Zitat Uhlig HH. Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease. Gut. 2013;62:1795–805.PubMedCrossRef Uhlig HH. Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease. Gut. 2013;62:1795–805.PubMedCrossRef
15.
Zurück zum Zitat Kelsen JR, Baldassano RN, Artis D, Sonnenberg GF. Maintaining intestinal health: the genetics and immunology of very early onset inflammatory bowel disease. Cell Mol Gastroenterol Hepatol. 2015;1:462–76.PubMedPubMedCentralCrossRef Kelsen JR, Baldassano RN, Artis D, Sonnenberg GF. Maintaining intestinal health: the genetics and immunology of very early onset inflammatory bowel disease. Cell Mol Gastroenterol Hepatol. 2015;1:462–76.PubMedPubMedCentralCrossRef
16.
Zurück zum Zitat Uhlig HH, Schwerd T. From genes to mechanisms: the expanding spectrum of monogenic disorders associated with inflammatory bowel disease. Inflamm Bowel Dis. 2016;22:202–12.PubMedCrossRef Uhlig HH, Schwerd T. From genes to mechanisms: the expanding spectrum of monogenic disorders associated with inflammatory bowel disease. Inflamm Bowel Dis. 2016;22:202–12.PubMedCrossRef
17.
Zurück zum Zitat Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schäffer AA, Noyan F, et al. Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N Engl J Med. 2009;361:2033–45.PubMedPubMedCentralCrossRef Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schäffer AA, Noyan F, et al. Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N Engl J Med. 2009;361:2033–45.PubMedPubMedCentralCrossRef
18.
Zurück zum Zitat Li Q, Lee CH, Peters LA, Mastropaolo LA, Thoeni C, Elkadri A, et al. Variants in TRIM22 that affect NOD2 signaling are associated with very-early-onset inflammatory bowel disease. Gastroenterology. 2016;150:1196–207.PubMedPubMedCentralCrossRef Li Q, Lee CH, Peters LA, Mastropaolo LA, Thoeni C, Elkadri A, et al. Variants in TRIM22 that affect NOD2 signaling are associated with very-early-onset inflammatory bowel disease. Gastroenterology. 2016;150:1196–207.PubMedPubMedCentralCrossRef
19.
Zurück zum Zitat Holland SM. Chronic granulomatous disease. Hematol Oncol Clin North Am. 2013;27:89–99. viiiPubMedCrossRef Holland SM. Chronic granulomatous disease. Hematol Oncol Clin North Am. 2013;27:89–99. viiiPubMedCrossRef
20.
Zurück zum Zitat Dupuis-Girod S, Medioni J, Haddad E, Quartier P, Cavazzana-Calvo M, le Deist F, et al. Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. Pediatrics. 2003;111:e622–7.PubMedCrossRef Dupuis-Girod S, Medioni J, Haddad E, Quartier P, Cavazzana-Calvo M, le Deist F, et al. Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. Pediatrics. 2003;111:e622–7.PubMedCrossRef
21.
Zurück zum Zitat Uzel G, Orange JS, Poliak N, Marciano BE, Heller T, Holland SM. Complications of tumor necrosis factor-alpha blockade in chronic granulomatous disease-related colitis. Clin Infect Dis. 2010;51:1429–34.PubMedPubMedCentralCrossRef Uzel G, Orange JS, Poliak N, Marciano BE, Heller T, Holland SM. Complications of tumor necrosis factor-alpha blockade in chronic granulomatous disease-related colitis. Clin Infect Dis. 2010;51:1429–34.PubMedPubMedCentralCrossRef
22.
Zurück zum Zitat Kotlarz D, Beier R, Murugan D, Diestelhorst J, Jensen O, Boztug K, et al. Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy. Gastroenterology. 2012;143:347–55.PubMedCrossRef Kotlarz D, Beier R, Murugan D, Diestelhorst J, Jensen O, Boztug K, et al. Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy. Gastroenterology. 2012;143:347–55.PubMedCrossRef
23.
Zurück zum Zitat Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, et al. AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science. 2015;349:436–40.PubMedCrossRef Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, et al. AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science. 2015;349:436–40.PubMedCrossRef
24.
Zurück zum Zitat Moore KW, de Waal Malefyt R, Coffman RL, O'Garra A. Interleukin-10 and the interleukin-10 receptor. Annu Rev Immunol. 2001;19:683–765.PubMedCrossRef Moore KW, de Waal Malefyt R, Coffman RL, O'Garra A. Interleukin-10 and the interleukin-10 receptor. Annu Rev Immunol. 2001;19:683–765.PubMedCrossRef
25.
Zurück zum Zitat Shouval DS, Ouahed J, Biswas A, Goettel JA, Horwitz BH, Klein C, et al. Interleukin 10 receptor signaling: master regulator of intestinal mucosal homeostasis in mice and humans. Adv Immunol. 2014;122:177–210.PubMedPubMedCentralCrossRef Shouval DS, Ouahed J, Biswas A, Goettel JA, Horwitz BH, Klein C, et al. Interleukin 10 receptor signaling: master regulator of intestinal mucosal homeostasis in mice and humans. Adv Immunol. 2014;122:177–210.PubMedPubMedCentralCrossRef
26.
Zurück zum Zitat Spencer SD, Di Marco F, Hooley J, et al. The orphan receptor CRF2-4 is an essential subunit of the interleukin 10 receptor. J Exp Med. 1998;187:571–8.PubMedPubMedCentralCrossRef Spencer SD, Di Marco F, Hooley J, et al. The orphan receptor CRF2-4 is an essential subunit of the interleukin 10 receptor. J Exp Med. 1998;187:571–8.PubMedPubMedCentralCrossRef
27.
Zurück zum Zitat Kuhn R, Lohler J, Rennick D, et al. Interleukin-10-deficient mice develop chronic enterocolitis. Cell. 1993;75:263–74.PubMedCrossRef Kuhn R, Lohler J, Rennick D, et al. Interleukin-10-deficient mice develop chronic enterocolitis. Cell. 1993;75:263–74.PubMedCrossRef
28.
Zurück zum Zitat Murai M, Turovskaya O, Kim G, Madan R, Karp CL, Cheroutre H, et al. Interleukin 10 acts on regulatory T cells to maintain expression of the transcription factor Foxp3 and suppressive function in mice with colitis. Nat Immunol. 2009;10:1178–84.PubMedPubMedCentralCrossRef Murai M, Turovskaya O, Kim G, Madan R, Karp CL, Cheroutre H, et al. Interleukin 10 acts on regulatory T cells to maintain expression of the transcription factor Foxp3 and suppressive function in mice with colitis. Nat Immunol. 2009;10:1178–84.PubMedPubMedCentralCrossRef
29.
Zurück zum Zitat Kamanaka M, Huber S, Zenewicz LA, Gagliani N, Rathinam C, O'Connor W Jr, et al. Memory/effector (CD45RB(lo)) CD4 T cells are controlled directly by IL-10 and cause IL-22-dependent intestinal pathology. J Exp Med. 2011;208:1027–40.PubMedPubMedCentralCrossRef Kamanaka M, Huber S, Zenewicz LA, Gagliani N, Rathinam C, O'Connor W Jr, et al. Memory/effector (CD45RB(lo)) CD4 T cells are controlled directly by IL-10 and cause IL-22-dependent intestinal pathology. J Exp Med. 2011;208:1027–40.PubMedPubMedCentralCrossRef
30.
Zurück zum Zitat Huber S, Gagliani N, Esplugues E, O'Connor W Jr, Huber FJ, Chaudhry A, et al. Th17 cells express interleukin-10 receptor and are controlled by Foxp3(−) and Foxp3+ regulatory CD4+ T cells in an interleukin-10-dependent manner. Immunity. 2011;34:554–65.PubMedPubMedCentralCrossRef Huber S, Gagliani N, Esplugues E, O'Connor W Jr, Huber FJ, Chaudhry A, et al. Th17 cells express interleukin-10 receptor and are controlled by Foxp3(−) and Foxp3+ regulatory CD4+ T cells in an interleukin-10-dependent manner. Immunity. 2011;34:554–65.PubMedPubMedCentralCrossRef
31.
Zurück zum Zitat Chaudhry A, Samstein RM, Treuting P, Liang Y, Pils MC, Heinrich JM, et al. Interleukin-10 signaling in regulatory T cells is required for suppression of Th17 cell-mediated inflammation. Immunity. 2011;34:566–78.PubMedPubMedCentralCrossRef Chaudhry A, Samstein RM, Treuting P, Liang Y, Pils MC, Heinrich JM, et al. Interleukin-10 signaling in regulatory T cells is required for suppression of Th17 cell-mediated inflammation. Immunity. 2011;34:566–78.PubMedPubMedCentralCrossRef
32.
Zurück zum Zitat Shouval DS, Biswas A, Goettel JA, McCann K, Conaway E, Redhu NS, et al. Interleukin-10 receptor signaling in innate immune cells regulates mucosal immune tolerance and anti-inflammatory macrophage function. Immunity. 2014;40:706–19.PubMedPubMedCentralCrossRef Shouval DS, Biswas A, Goettel JA, McCann K, Conaway E, Redhu NS, et al. Interleukin-10 receptor signaling in innate immune cells regulates mucosal immune tolerance and anti-inflammatory macrophage function. Immunity. 2014;40:706–19.PubMedPubMedCentralCrossRef
33.
Zurück zum Zitat Zigmond E, Bernshtein B, Friedlander G, Walker CR, Yona S, Kim KW, et al. Macrophage-restricted interleukin-10 receptor deficiency, but not IL-10 deficiency, causes severe spontaneous colitis. Immunity. 2014;40:720–33.PubMedCrossRef Zigmond E, Bernshtein B, Friedlander G, Walker CR, Yona S, Kim KW, et al. Macrophage-restricted interleukin-10 receptor deficiency, but not IL-10 deficiency, causes severe spontaneous colitis. Immunity. 2014;40:720–33.PubMedCrossRef
34.
Zurück zum Zitat Li B, Gurung P, Malireddi RK, et al. IL-10 engages macrophages to shift Th17 cytokine dependency and pathogenicity during T-cell-mediated colitis. Nat Commun. 2015;6:6131.PubMedPubMedCentralCrossRef Li B, Gurung P, Malireddi RK, et al. IL-10 engages macrophages to shift Th17 cytokine dependency and pathogenicity during T-cell-mediated colitis. Nat Commun. 2015;6:6131.PubMedPubMedCentralCrossRef
35.
Zurück zum Zitat Li B, Alli R, Vogel P, Geiger TL. IL-10 modulates DSS-induced colitis through a macrophage-ROS-NO axis. Mucosal Immunol. 2014;7:869–78.PubMedCrossRef Li B, Alli R, Vogel P, Geiger TL. IL-10 modulates DSS-induced colitis through a macrophage-ROS-NO axis. Mucosal Immunol. 2014;7:869–78.PubMedCrossRef
36.
Zurück zum Zitat Glocker EO, Frede N, Perro M, Sebire N, Elawad M, Shah N, et al. Infant colitis—it’s in the genes. Lancet. 2010;376:1272.PubMedCrossRef Glocker EO, Frede N, Perro M, Sebire N, Elawad M, Shah N, et al. Infant colitis—it’s in the genes. Lancet. 2010;376:1272.PubMedCrossRef
37.
Zurück zum Zitat Pigneur B, Escher J, Elawad M, Lima R, Buderus S, Kierkus J, et al. Phenotypic characterization of very early-onset IBD due to mutations in the IL10, IL10 receptor alpha or beta gene: a survey of the Genius Working Group. Inflamm Bowel Dis. 2013;19:2820–8.PubMedCrossRef Pigneur B, Escher J, Elawad M, Lima R, Buderus S, Kierkus J, et al. Phenotypic characterization of very early-onset IBD due to mutations in the IL10, IL10 receptor alpha or beta gene: a survey of the Genius Working Group. Inflamm Bowel Dis. 2013;19:2820–8.PubMedCrossRef
38.
Zurück zum Zitat Begue B, Verdier J, Rieux-Laucat F, Goulet O, Morali A, Canioni D, et al. Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease. Am J Gastroenterol. 2011;106:1544–55.PubMedCrossRef Begue B, Verdier J, Rieux-Laucat F, Goulet O, Morali A, Canioni D, et al. Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease. Am J Gastroenterol. 2011;106:1544–55.PubMedCrossRef
39.
Zurück zum Zitat Engelhardt KR, Shah N, Faizura-Yeop I, Kocacik Uygun DF, Frede N, Muise AM, et al. Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation. J Allergy Clin Immunol. 2013;131:825–30.PubMedCrossRef Engelhardt KR, Shah N, Faizura-Yeop I, Kocacik Uygun DF, Frede N, Muise AM, et al. Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation. J Allergy Clin Immunol. 2013;131:825–30.PubMedCrossRef
40.
Zurück zum Zitat Huang Z, Peng K, Li X, Zhao R, You J, Cheng X, et al. Mutations in interleukin-10 receptor and clinical phenotypes in patients with very early onset inflammatory bowel disease: a Chinese VEO-IBD Collaboration Group Survey. Inflamm Bowel Dis. 2017;23:578–90.PubMedCrossRef Huang Z, Peng K, Li X, Zhao R, You J, Cheng X, et al. Mutations in interleukin-10 receptor and clinical phenotypes in patients with very early onset inflammatory bowel disease: a Chinese VEO-IBD Collaboration Group Survey. Inflamm Bowel Dis. 2017;23:578–90.PubMedCrossRef
41.
Zurück zum Zitat Murugan D, Albert MH, Langemeier J, Bohne J, Puchalka J, Järvinen PM, et al. Very early onset inflammatory bowel disease associated with aberrant trafficking of IL-10R1 and cure by T cell replete haploidentical bone marrow transplantation. J Clin Immunol. 2014;34:331–9.PubMedCrossRef Murugan D, Albert MH, Langemeier J, Bohne J, Puchalka J, Järvinen PM, et al. Very early onset inflammatory bowel disease associated with aberrant trafficking of IL-10R1 and cure by T cell replete haploidentical bone marrow transplantation. J Clin Immunol. 2014;34:331–9.PubMedCrossRef
42.
Zurück zum Zitat Kominsky DJ, Campbell EL, Ehrentraut SF, Wilson KE, Kelly CJ, Glover LE, et al. IFN-gamma-mediated induction of an apical IL-10 receptor on polarized intestinal epithelia. J Immunol. 2014;192:1267–76.PubMedCrossRef Kominsky DJ, Campbell EL, Ehrentraut SF, Wilson KE, Kelly CJ, Glover LE, et al. IFN-gamma-mediated induction of an apical IL-10 receptor on polarized intestinal epithelia. J Immunol. 2014;192:1267–76.PubMedCrossRef
43.
Zurück zum Zitat Colgan SP, Hershberg RM, Furuta GT, Blumberg RS. Ligation of intestinal epithelial CD1d induces bioactive IL-10: critical role of the cytoplasmic tail in autocrine signaling. Proc Natl Acad Sci U S A. 1999;96:13938–43.PubMedPubMedCentralCrossRef Colgan SP, Hershberg RM, Furuta GT, Blumberg RS. Ligation of intestinal epithelial CD1d induces bioactive IL-10: critical role of the cytoplasmic tail in autocrine signaling. Proc Natl Acad Sci U S A. 1999;96:13938–43.PubMedPubMedCentralCrossRef
44.
Zurück zum Zitat Quiros M, Nishio H, Neumann PA, Siuda D, Brazil JC, Azcutia V, et al. Macrophage-derived IL-10 mediates mucosal repair by epithelial WISP-1 signaling. J Clin Invest. 2017;127:3510–20.PubMedPubMedCentralCrossRef Quiros M, Nishio H, Neumann PA, Siuda D, Brazil JC, Azcutia V, et al. Macrophage-derived IL-10 mediates mucosal repair by epithelial WISP-1 signaling. J Clin Invest. 2017;127:3510–20.PubMedPubMedCentralCrossRef
45.
Zurück zum Zitat Zheng L, Kelly CJ, Battista KD, Schaefer R, Lanis JM, Alexeev EE, et al. Microbial-derived butyrate promotes epithelial barrier function through IL-10 receptor-dependent repression of claudin-2. J Immunol. 2017;199:2976–84.PubMedCrossRef Zheng L, Kelly CJ, Battista KD, Schaefer R, Lanis JM, Alexeev EE, et al. Microbial-derived butyrate promotes epithelial barrier function through IL-10 receptor-dependent repression of claudin-2. J Immunol. 2017;199:2976–84.PubMedCrossRef
46.
Zurück zum Zitat Lanis JM, Alexeev EE, Curtis VF, Kitzenberg DA, Kao DJ, Battista KD, et al. Tryptophan metabolite activation of the aryl hydrocarbon receptor regulates IL-10 receptor expression on intestinal epithelia. Mucosal Immunol. 2017;10:1133–44.PubMedPubMedCentralCrossRef Lanis JM, Alexeev EE, Curtis VF, Kitzenberg DA, Kao DJ, Battista KD, et al. Tryptophan metabolite activation of the aryl hydrocarbon receptor regulates IL-10 receptor expression on intestinal epithelia. Mucosal Immunol. 2017;10:1133–44.PubMedPubMedCentralCrossRef
47.
Zurück zum Zitat Neven B, Mamessier E, Bruneau J, Kaltenbach S, Kotlarz D, Suarez F, et al. A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency. Blood. 2013;122:3713–22.PubMedCrossRef Neven B, Mamessier E, Bruneau J, Kaltenbach S, Kotlarz D, Suarez F, et al. A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency. Blood. 2013;122:3713–22.PubMedCrossRef
48.
Zurück zum Zitat Shouval DS, Ebens CL, Murchie R, et al. Large B-cell lymphoma in an adolescent patient with IL-10 receptor deficiency and history of infantile inflammatory bowel disease. J Pediatr Gastroenterol Nutr. 2016;63(1):e15–7. Shouval DS, Ebens CL, Murchie R, et al. Large B-cell lymphoma in an adolescent patient with IL-10 receptor deficiency and history of infantile inflammatory bowel disease. J Pediatr Gastroenterol Nutr. 2016;63(1):e15–7.
49.
Zurück zum Zitat Mumm JB, Emmerich J, Zhang X, Chan I, Wu L, Mauze S, et al. IL-10 elicits IFNgamma-dependent tumor immune surveillance. Cancer Cell. 2011;20:781–96.PubMedCrossRef Mumm JB, Emmerich J, Zhang X, Chan I, Wu L, Mauze S, et al. IL-10 elicits IFNgamma-dependent tumor immune surveillance. Cancer Cell. 2011;20:781–96.PubMedCrossRef
50.
Zurück zum Zitat Shouval DS, Biswas A, Kang YH, Griffith AE, Konnikova L, Mascanfroni ID, et al. Interleukin 1beta mediates intestinal inflammation in mice and patients with interleukin 10 receptor deficiency. Gastroenterology. 2016;151:1100–4.PubMedPubMedCentralCrossRef Shouval DS, Biswas A, Kang YH, Griffith AE, Konnikova L, Mascanfroni ID, et al. Interleukin 1beta mediates intestinal inflammation in mice and patients with interleukin 10 receptor deficiency. Gastroenterology. 2016;151:1100–4.PubMedPubMedCentralCrossRef
51.
Zurück zum Zitat Ip WKE, Hoshi N, Shouval DS, Snapper S, Medzhitov R. Anti-inflammatory effect of IL-10 mediated by metabolic reprogramming of macrophages. Science. 2017;356:513–9.PubMedCrossRef Ip WKE, Hoshi N, Shouval DS, Snapper S, Medzhitov R. Anti-inflammatory effect of IL-10 mediated by metabolic reprogramming of macrophages. Science. 2017;356:513–9.PubMedCrossRef
52.
Zurück zum Zitat Shouval DS, Konnikova L, Griffith AE, et al. Enhanced TH17 responses in patients with IL10 receptor deficiency and infantile-onset IBD. Inflamm Bowel Dis. 2017;23:1950–61.PubMedCrossRef Shouval DS, Konnikova L, Griffith AE, et al. Enhanced TH17 responses in patients with IL10 receptor deficiency and infantile-onset IBD. Inflamm Bowel Dis. 2017;23:1950–61.PubMedCrossRef
53.
Zurück zum Zitat Schappi MG, Klein NJ, Lindley KJ, et al. The nature of colitis in chronic granulomatous disease. J Pediatr Gastroenterol Nutr. 2003;36:623–31.PubMedCrossRef Schappi MG, Klein NJ, Lindley KJ, et al. The nature of colitis in chronic granulomatous disease. J Pediatr Gastroenterol Nutr. 2003;36:623–31.PubMedCrossRef
55.
Zurück zum Zitat Marciano BE, Rosenzweig SD, Kleiner DE, Anderson VL, Darnell DN, Anaya-O'Brien S, et al. Gastrointestinal involvement in chronic granulomatous disease. Pediatrics. 2004;114:462–8.PubMedCrossRef Marciano BE, Rosenzweig SD, Kleiner DE, Anderson VL, Darnell DN, Anaya-O'Brien S, et al. Gastrointestinal involvement in chronic granulomatous disease. Pediatrics. 2004;114:462–8.PubMedCrossRef
56.
Zurück zum Zitat Marks DJ, Miyagi K, Rahman FZ, et al. Inflammatory bowel disease in CGD reproduces the clinicopathological features of Crohn’s disease. Am J Gastroenterol. 2009;104:117–24.PubMedCrossRef Marks DJ, Miyagi K, Rahman FZ, et al. Inflammatory bowel disease in CGD reproduces the clinicopathological features of Crohn’s disease. Am J Gastroenterol. 2009;104:117–24.PubMedCrossRef
57.
Zurück zum Zitat Cannioto Z, Berti I, Martelossi S, Bruno I, Giurici N, Crovella S, et al. IBD and IBD mimicking enterocolitis in children younger than 2 years of age. Eur J Pediatr. 2009;168:149–55.PubMedCrossRef Cannioto Z, Berti I, Martelossi S, Bruno I, Giurici N, Crovella S, et al. IBD and IBD mimicking enterocolitis in children younger than 2 years of age. Eur J Pediatr. 2009;168:149–55.PubMedCrossRef
58.
Zurück zum Zitat Kawai T, Arai K, Harayama S, Nakazawa Y, Goto F, Maekawa T, et al. Severe and rapid progression in very early-onset chronic granulomatous disease-associated colitis. J Clin Immunol. 2015;35:583–8.PubMedCrossRef Kawai T, Arai K, Harayama S, Nakazawa Y, Goto F, Maekawa T, et al. Severe and rapid progression in very early-onset chronic granulomatous disease-associated colitis. J Clin Immunol. 2015;35:583–8.PubMedCrossRef
59.
Zurück zum Zitat Khangura SK, Kamal N, Ho N, Quezado M, Zhao X, Marciano B, et al. Gastrointestinal features of chronic granulomatous disease found during endoscopy. Clin Gastroenterol Hepatol. 2016;14:395–402.e5.PubMedCrossRef Khangura SK, Kamal N, Ho N, Quezado M, Zhao X, Marciano B, et al. Gastrointestinal features of chronic granulomatous disease found during endoscopy. Clin Gastroenterol Hepatol. 2016;14:395–402.e5.PubMedCrossRef
60.
Zurück zum Zitat Rosenbaum BE, Shenoy R, Vuppula S, Thomas K, Moy L, Kaul A. Colitis as the sole initial presentation of chronic granulomatous disease: histopathologic clues to diagnosis. Pediatr Infect Dis J. 2016;35:1229–31.PubMedCrossRef Rosenbaum BE, Shenoy R, Vuppula S, Thomas K, Moy L, Kaul A. Colitis as the sole initial presentation of chronic granulomatous disease: histopathologic clues to diagnosis. Pediatr Infect Dis J. 2016;35:1229–31.PubMedCrossRef
61.
Zurück zum Zitat Broides A, Sagi O, Pinsk V, et al. Subclinical intestinal inflammation in chronic granulomatous disease patients. Immunol Res. 2016;64(1):155–9. Broides A, Sagi O, Pinsk V, et al. Subclinical intestinal inflammation in chronic granulomatous disease patients. Immunol Res. 2016;64(1):155–9.
62.
Zurück zum Zitat Yu JE, De Ravin SS, Uzel G, et al. High levels of Crohn’s disease-associated anti-microbial antibodies are present and independent of colitis in chronic granulomatous disease. Clin Immunol. 2011;138:14–22.PubMedCrossRef Yu JE, De Ravin SS, Uzel G, et al. High levels of Crohn’s disease-associated anti-microbial antibodies are present and independent of colitis in chronic granulomatous disease. Clin Immunol. 2011;138:14–22.PubMedCrossRef
63.
Zurück zum Zitat Deffert C, Olleros ML, Huiping Y, Herrmann FR, Zekry D, Garcia I, et al. TNF-alpha blockade in chronic granulomatous disease-induced hyperinflammation: patient analysis and murine model. J Allergy Clin Immunol. 2011;128:675–7.PubMedCrossRef Deffert C, Olleros ML, Huiping Y, Herrmann FR, Zekry D, Garcia I, et al. TNF-alpha blockade in chronic granulomatous disease-induced hyperinflammation: patient analysis and murine model. J Allergy Clin Immunol. 2011;128:675–7.PubMedCrossRef
64.
Zurück zum Zitat Kawai T, Watanabe N, Yokoyama M, Arai K, Oana S, Harayama S, et al. Thalidomide attenuates excessive inflammation without interrupting lipopolysaccharide-driven inflammatory cytokine production in chronic granulomatous disease. Clin Immunol. 2013;147:122–8.PubMedCrossRef Kawai T, Watanabe N, Yokoyama M, Arai K, Oana S, Harayama S, et al. Thalidomide attenuates excessive inflammation without interrupting lipopolysaccharide-driven inflammatory cytokine production in chronic granulomatous disease. Clin Immunol. 2013;147:122–8.PubMedCrossRef
65.
Zurück zum Zitat Noel N, Mahlaoui N, Blanche S, Suarez F, Coignard-Biehler H, Durieu I, et al. Efficacy and safety of thalidomide in patients with inflammatory manifestations of chronic granulomatous disease: a retrospective case series. J Allergy Clin Immunol. 2013;132(4):997–1000 e1.PubMedCrossRef Noel N, Mahlaoui N, Blanche S, Suarez F, Coignard-Biehler H, Durieu I, et al. Efficacy and safety of thalidomide in patients with inflammatory manifestations of chronic granulomatous disease: a retrospective case series. J Allergy Clin Immunol. 2013;132(4):997–1000 e1.PubMedCrossRef
66.
Zurück zum Zitat Simon M, Pariente B, Lambert J, Cosnes J, Bouhnik Y, Marteau P, et al. Long-term outcomes of thalidomide therapy for adults with refractory Crohn’s disease. Clin Gastroenterol Hepatol. 2016;14:966–972.e2.PubMedCrossRef Simon M, Pariente B, Lambert J, Cosnes J, Bouhnik Y, Marteau P, et al. Long-term outcomes of thalidomide therapy for adults with refractory Crohn’s disease. Clin Gastroenterol Hepatol. 2016;14:966–972.e2.PubMedCrossRef
67.
Zurück zum Zitat de Luca A, Smeekens SP, Casagrande A, Iannitti R, Conway KL, Gresnigt MS, et al. IL-1 receptor blockade restores autophagy and reduces inflammation in chronic granulomatous disease in mice and in humans. Proc Natl Acad Sci U S A. 2014;111:3526–31.PubMedPubMedCentralCrossRef de Luca A, Smeekens SP, Casagrande A, Iannitti R, Conway KL, Gresnigt MS, et al. IL-1 receptor blockade restores autophagy and reduces inflammation in chronic granulomatous disease in mice and in humans. Proc Natl Acad Sci U S A. 2014;111:3526–31.PubMedPubMedCentralCrossRef
68.
Zurück zum Zitat Hahn KJ, Ho N, Yockey L, Kreuzberg S, Daub J, Rump A, et al. Treatment with anakinra, a recombinant IL-1 receptor antagonist, unlikely to induce lasting remission in patients with CGD colitis. Am J Gastroenterol. 2015;110:938–9.PubMedCrossRef Hahn KJ, Ho N, Yockey L, Kreuzberg S, Daub J, Rump A, et al. Treatment with anakinra, a recombinant IL-1 receptor antagonist, unlikely to induce lasting remission in patients with CGD colitis. Am J Gastroenterol. 2015;110:938–9.PubMedCrossRef
69.
70.
Zurück zum Zitat Kang EM, Marciano BE, DeRavin S, Zarember KA, Holland SM, Malech HL. Chronic granulomatous disease: overview and hematopoietic stem cell transplantation. J Allergy Clin Immunol. 2011;127:1319–26. quiz 1327–8PubMedPubMedCentralCrossRef Kang EM, Marciano BE, DeRavin S, Zarember KA, Holland SM, Malech HL. Chronic granulomatous disease: overview and hematopoietic stem cell transplantation. J Allergy Clin Immunol. 2011;127:1319–26. quiz 1327–8PubMedPubMedCentralCrossRef
71.
Zurück zum Zitat Horwitz ME, Barrett AJ, Brown MR, Carter CS, Childs R, Gallin JI, et al. Treatment of chronic granulomatous disease with nonmyeloablative conditioning and a T-cell-depleted hematopoietic allograft. N Engl J Med. 2001;344:881–8.PubMedCrossRef Horwitz ME, Barrett AJ, Brown MR, Carter CS, Childs R, Gallin JI, et al. Treatment of chronic granulomatous disease with nonmyeloablative conditioning and a T-cell-depleted hematopoietic allograft. N Engl J Med. 2001;344:881–8.PubMedCrossRef
72.
Zurück zum Zitat Parta M, Kelly C, Kwatemaa N, Theobald N, Hilligoss D, Qin J, et al. Allogeneic reduced-intensity hematopoietic stem cell transplantation for chronic granulomatous disease: a single-center prospective trial. J Clin Immunol. 2017;37:548–58.PubMedCrossRef Parta M, Kelly C, Kwatemaa N, Theobald N, Hilligoss D, Qin J, et al. Allogeneic reduced-intensity hematopoietic stem cell transplantation for chronic granulomatous disease: a single-center prospective trial. J Clin Immunol. 2017;37:548–58.PubMedCrossRef
73.
Zurück zum Zitat Gungor T, Teira P, Slatter M, et al. Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study. Lancet. 2014;383:436–48.PubMedCrossRef Gungor T, Teira P, Slatter M, et al. Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study. Lancet. 2014;383:436–48.PubMedCrossRef
74.
Zurück zum Zitat Kato K, Kojima Y, Kobayashi C, Mitsui K, Nakajima-Yamaguchi R, Kudo K, et al. Successful allogeneic hematopoietic stem cell transplantation for chronic granulomatous disease with inflammatory complications and severe infection. Int J Hematol. 2011;94:479–82.PubMedCrossRef Kato K, Kojima Y, Kobayashi C, Mitsui K, Nakajima-Yamaguchi R, Kudo K, et al. Successful allogeneic hematopoietic stem cell transplantation for chronic granulomatous disease with inflammatory complications and severe infection. Int J Hematol. 2011;94:479–82.PubMedCrossRef
75.
Zurück zum Zitat Gungor T, Halter J, Klink A, et al. Successful low toxicity hematopoietic stem cell transplantation for high-risk adult chronic granulomatous disease patients. Transplantation. 2005;79:1596–606.PubMedCrossRef Gungor T, Halter J, Klink A, et al. Successful low toxicity hematopoietic stem cell transplantation for high-risk adult chronic granulomatous disease patients. Transplantation. 2005;79:1596–606.PubMedCrossRef
76.
Zurück zum Zitat Hauck F, Koletzko S, Walz C, et al. Diagnostic and treatment options for severe IBD in female X-CGD carriers with non-random X-inactivation. J Crohns Colitis. 2016;10(1):112–5. Hauck F, Koletzko S, Walz C, et al. Diagnostic and treatment options for severe IBD in female X-CGD carriers with non-random X-inactivation. J Crohns Colitis. 2016;10(1):112–5.
78.
Zurück zum Zitat De Ravin SS, Li L, Wu X, et al. CRISPR-Cas9 gene repair of hematopoietic stem cells from patients with X-linked chronic granulomatous disease. Sci Transl Med. 2017;9:eaah3480.PubMedCrossRef De Ravin SS, Li L, Wu X, et al. CRISPR-Cas9 gene repair of hematopoietic stem cells from patients with X-linked chronic granulomatous disease. Sci Transl Med. 2017;9:eaah3480.PubMedCrossRef
79.
Zurück zum Zitat Muise AM, Xu W, Guo CH, Walters TD, Wolters VM, Fattouh R, et al. NADPH oxidase complex and IBD candidate gene studies: identification of a rare variant in NCF2 that results in reduced binding to RAC2. Gut. 2012;61:1028–35.PubMedCrossRef Muise AM, Xu W, Guo CH, Walters TD, Wolters VM, Fattouh R, et al. NADPH oxidase complex and IBD candidate gene studies: identification of a rare variant in NCF2 that results in reduced binding to RAC2. Gut. 2012;61:1028–35.PubMedCrossRef
80.
Zurück zum Zitat Dhillon SS, Fattouh R, Elkadri A, Xu W, Murchie R, Walters T, et al. Variants in nicotinamide adenine dinucleotide phosphate oxidase complex components determine susceptibility to very early onset inflammatory bowel disease. Gastroenterology. 2014;147:680–689.e2.PubMedCrossRef Dhillon SS, Fattouh R, Elkadri A, Xu W, Murchie R, Walters T, et al. Variants in nicotinamide adenine dinucleotide phosphate oxidase complex components determine susceptibility to very early onset inflammatory bowel disease. Gastroenterology. 2014;147:680–689.e2.PubMedCrossRef
81.
Zurück zum Zitat Rigaud S, Fondaneche MC, Lambert N, et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature. 2006;444:110–4.PubMedCrossRef Rigaud S, Fondaneche MC, Lambert N, et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature. 2006;444:110–4.PubMedCrossRef
82.
Zurück zum Zitat Aguilar C, Latour S. X-linked inhibitor of apoptosis protein deficiency: more than an X-linked lymphoproliferative syndrome. J Clin Immunol. 2015;35:331–8.PubMedCrossRef Aguilar C, Latour S. X-linked inhibitor of apoptosis protein deficiency: more than an X-linked lymphoproliferative syndrome. J Clin Immunol. 2015;35:331–8.PubMedCrossRef
83.
Zurück zum Zitat Schwerd T, Pandey S, Yang HT, et al. Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn’s disease. Gut. 2017;66(6):1060–1073. Schwerd T, Pandey S, Yang HT, et al. Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn’s disease. Gut. 2017;66(6):1060–1073.
84.
Zurück zum Zitat Girardelli M, Arrigo S, Barabino A, Loganes C, Morreale G, Crovella S, et al. The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency. BMC Pediatr. 2015;15:208.PubMedPubMedCentralCrossRef Girardelli M, Arrigo S, Barabino A, Loganes C, Morreale G, Crovella S, et al. The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency. BMC Pediatr. 2015;15:208.PubMedPubMedCentralCrossRef
85.
Zurück zum Zitat Pachlopnik Schmid J, Canioni D, Moshous D, et al. 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. 2011;117:1522–9.PubMedCrossRef Pachlopnik Schmid J, Canioni D, Moshous D, et al. 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. 2011;117:1522–9.PubMedCrossRef
86.
Zurück zum Zitat Aguilar C, Lenoir C, Lambert N, Bègue B, Brousse N, Canioni D, et al. Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers. J Allergy Clin Immunol. 2014;134:1131–1141.e9.PubMedCrossRef Aguilar C, Lenoir C, Lambert N, Bègue B, Brousse N, Canioni D, et al. Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers. J Allergy Clin Immunol. 2014;134:1131–1141.e9.PubMedCrossRef
87.
Zurück zum Zitat Dziadzio M, Ammann S, Canning C, Boyle F, Hassan A, Cale C, et al. Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency. J Clin Immunol. 2015;35:439–44.PubMedCrossRef Dziadzio M, Ammann S, Canning C, Boyle F, Hassan A, Cale C, et al. Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency. J Clin Immunol. 2015;35:439–44.PubMedCrossRef
88.
Zurück zum Zitat Yang X, Kanegane H, Nishida N, Imamura T, Hamamoto K, Miyashita R, et al. Clinical and genetic characteristics of XIAP deficiency in Japan. J Clin Immunol. 2012;32:411–20.PubMedCrossRef Yang X, Kanegane H, Nishida N, Imamura T, Hamamoto K, Miyashita R, et al. Clinical and genetic characteristics of XIAP deficiency in Japan. J Clin Immunol. 2012;32:411–20.PubMedCrossRef
89.
Zurück zum Zitat Speckmann C, Lehmberg K, Albert MH, Damgaard RB, Fritsch M, Gyrd-Hansen M, et al. X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. Clin Immunol. 2013;149:133–41.PubMedCrossRef Speckmann C, Lehmberg K, Albert MH, Damgaard RB, Fritsch M, Gyrd-Hansen M, et al. X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. Clin Immunol. 2013;149:133–41.PubMedCrossRef
90.
Zurück zum Zitat Worthey EA, Mayer AN, Syverson GD, Helbling D, Bonacci BB, Decker B, et al. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med. 2011;13:255–62.PubMedCrossRef Worthey EA, Mayer AN, Syverson GD, Helbling D, Bonacci BB, Decker B, et al. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med. 2011;13:255–62.PubMedCrossRef
91.
Zurück zum Zitat Zeissig Y, Petersen BS, Milutinovic S, et al. XIAP variants in male Crohn's disease. Gut. 2015;64:66–76.PubMedCrossRef Zeissig Y, Petersen BS, Milutinovic S, et al. XIAP variants in male Crohn's disease. Gut. 2015;64:66–76.PubMedCrossRef
92.
Zurück zum Zitat Kelsen JR, Dawany N, Martinez A, Grochowski CM, Maurer K, Rappaport E, et al. A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report. BMC Gastroenterol. 2015;15:160.PubMedPubMedCentralCrossRef Kelsen JR, Dawany N, Martinez A, Grochowski CM, Maurer K, Rappaport E, et al. A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report. BMC Gastroenterol. 2015;15:160.PubMedPubMedCentralCrossRef
93.
Zurück zum Zitat Tsuma Y, Imamura T, Ichise E, Sakamoto K, Ouchi K, Osone S, et al. Successful treatment of idiopathic colitis related to XIAP deficiency with allo-HSCT using reduced-intensity conditioning. Pediatr Transplant. 2015;19:E25–8.PubMedCrossRef Tsuma Y, Imamura T, Ichise E, Sakamoto K, Ouchi K, Osone S, et al. Successful treatment of idiopathic colitis related to XIAP deficiency with allo-HSCT using reduced-intensity conditioning. Pediatr Transplant. 2015;19:E25–8.PubMedCrossRef
94.
Zurück zum Zitat Marsh RA, Rao K, Satwani P, Lehmberg K, Muller I, Li D, et al. Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes. Blood. 2013;121:877–83.PubMedPubMedCentralCrossRef Marsh RA, Rao K, Satwani P, Lehmberg K, Muller I, Li D, et al. Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes. Blood. 2013;121:877–83.PubMedPubMedCentralCrossRef
95.
Zurück zum Zitat Worth AJ, Nikolajeva O, Chiesa R, et al. Successful stem cell transplant with antibody-based conditioning for XIAP deficiency with refractory hemophagocytic lymphohistiocytosis. Blood. 2013;121:4966–8.PubMedCrossRef Worth AJ, Nikolajeva O, Chiesa R, et al. Successful stem cell transplant with antibody-based conditioning for XIAP deficiency with refractory hemophagocytic lymphohistiocytosis. Blood. 2013;121:4966–8.PubMedCrossRef
96.
Zurück zum Zitat Lopez-Herrera G, Tampella G, Pan-Hammarstrom Q, et al. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet. 2012;90:986–1001.PubMedPubMedCentralCrossRef Lopez-Herrera G, Tampella G, Pan-Hammarstrom Q, et al. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet. 2012;90:986–1001.PubMedPubMedCentralCrossRef
97.
Zurück zum Zitat Alkhairy OK, Abolhassani H, Rezaei N, Fang M, Andersen KK, Chavoshzadeh Z, et al. Spectrum of phenotypes associated with mutations in LRBA. J Clin Immunol. 2016;36:33–45.PubMedCrossRef Alkhairy OK, Abolhassani H, Rezaei N, Fang M, Andersen KK, Chavoshzadeh Z, et al. Spectrum of phenotypes associated with mutations in LRBA. J Clin Immunol. 2016;36:33–45.PubMedCrossRef
98.
Zurück zum Zitat Gamez-Diaz L, August D, Stepensky P, et al. The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. J Allergy Clin Immunol. 2016;137:223–30.PubMedCrossRef Gamez-Diaz L, August D, Stepensky P, et al. The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. J Allergy Clin Immunol. 2016;137:223–30.PubMedCrossRef
99.
Zurück zum Zitat Charbonnier LM, Janssen E, Chou J, Ohsumi TK, Keles S, Hsu JT, et al. Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. J Allergy Clin Immunol. 2015;135:217–27.PubMedCrossRef Charbonnier LM, Janssen E, Chou J, Ohsumi TK, Keles S, Hsu JT, et al. Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. J Allergy Clin Immunol. 2015;135:217–27.PubMedCrossRef
100.
Zurück zum Zitat Revel-Vilk S, Fischer U, Keller B, Nabhani S, Gámez-Díaz L, Rensing-Ehl A, et al. Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation. Clin Immunol. 2015;159:84–92.PubMedCrossRef Revel-Vilk S, Fischer U, Keller B, Nabhani S, Gámez-Díaz L, Rensing-Ehl A, et al. Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation. Clin Immunol. 2015;159:84–92.PubMedCrossRef
101.
Zurück zum Zitat Schreiner F, Plamper M, Dueker G, Schoenberger S, Gámez-Díaz L, Grimbacher B, et al. Infancy-onset T1DM, short stature, and severe immunodysregulation in two siblings with a homozygous LRBA mutation. J Clin Endocrinol Metab. 2016;101:898–904.PubMedCrossRef Schreiner F, Plamper M, Dueker G, Schoenberger S, Gámez-Díaz L, Grimbacher B, et al. Infancy-onset T1DM, short stature, and severe immunodysregulation in two siblings with a homozygous LRBA mutation. J Clin Endocrinol Metab. 2016;101:898–904.PubMedCrossRef
102.
Zurück zum Zitat Levy E, Stolzenberg MC, Bruneau J, et al. LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis. Clin Immunol. 2016;168:88–93.PubMedCrossRef Levy E, Stolzenberg MC, Bruneau J, et al. LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis. Clin Immunol. 2016;168:88–93.PubMedCrossRef
103.
Zurück zum Zitat Kostel Bal S, Haskologlu S, Serwas NK, Islamoglu C, Aytekin C, Kendirli T, et al. Multiple presentations of LRBA deficiency: a single-center experience. J Clin Immunol. 2017;37:790–800.PubMedCrossRef Kostel Bal S, Haskologlu S, Serwas NK, Islamoglu C, Aytekin C, Kendirli T, et al. Multiple presentations of LRBA deficiency: a single-center experience. J Clin Immunol. 2017;37:790–800.PubMedCrossRef
104.
Zurück zum Zitat Alangari A, Alsultan A, Adly N, Massaad MJ, Kiani IS, Aljebreen A, et al. LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. J Allergy Clin Immunol. 2012;130:481–488.e2.PubMedPubMedCentralCrossRef Alangari A, Alsultan A, Adly N, Massaad MJ, Kiani IS, Aljebreen A, et al. LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. J Allergy Clin Immunol. 2012;130:481–488.e2.PubMedPubMedCentralCrossRef
105.
Zurück zum Zitat Serwas NK, Kansu A, Santos-Valente E, Kuloğlu Z, Demir A, Yaman A, et al. Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype. Inflamm Bowel Dis. 2015;21:40–7.PubMedCrossRef Serwas NK, Kansu A, Santos-Valente E, Kuloğlu Z, Demir A, Yaman A, et al. Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype. Inflamm Bowel Dis. 2015;21:40–7.PubMedCrossRef
106.
Zurück zum Zitat Azizi G, Abolhassani H, Mahdaviani SA, Chavoshzadeh Z, Eshghi P, Yazdani R, et al. Clinical, immunologic, molecular analyses and outcomes of Iranian patients with LRBA deficiency: a longitudinal study. Pediatr Allergy Immunol. 2017;28:478–84.PubMedCrossRef Azizi G, Abolhassani H, Mahdaviani SA, Chavoshzadeh Z, Eshghi P, Yazdani R, et al. Clinical, immunologic, molecular analyses and outcomes of Iranian patients with LRBA deficiency: a longitudinal study. Pediatr Allergy Immunol. 2017;28:478–84.PubMedCrossRef
107.
Zurück zum Zitat Azizi G, Abolhassani H, Yazdani R, Mohammadikhajehdehi S, Parvaneh N, Negahdari B, et al. New therapeutic approach by sirolimus for enteropathy treatment in patients with LRBA deficiency. Eur Ann Allergy Clin Immunol. 2017;49:235–9.PubMedCrossRef Azizi G, Abolhassani H, Yazdani R, Mohammadikhajehdehi S, Parvaneh N, Negahdari B, et al. New therapeutic approach by sirolimus for enteropathy treatment in patients with LRBA deficiency. Eur Ann Allergy Clin Immunol. 2017;49:235–9.PubMedCrossRef
108.
Zurück zum Zitat Tesi B, Priftakis P, Lindgren F, Chiang SCC, Kartalis N, Löfstedt A, et al. Successful hematopoietic stem cell transplantation in a patient with LPS-responsive beige-like anchor (LRBA) gene mutation. J Clin Immunol. 2016;36:480–9.PubMedCrossRef Tesi B, Priftakis P, Lindgren F, Chiang SCC, Kartalis N, Löfstedt A, et al. Successful hematopoietic stem cell transplantation in a patient with LPS-responsive beige-like anchor (LRBA) gene mutation. J Clin Immunol. 2016;36:480–9.PubMedCrossRef
109.
Zurück zum Zitat Seidel MG, Hirschmugl T, Gamez-Diaz L, Schwinger W, Serwas N, Deutschmann A, et al. Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency. J Allergy Clin Immunol. 2015;135:1384–1390.e8.PubMedPubMedCentralCrossRef Seidel MG, Hirschmugl T, Gamez-Diaz L, Schwinger W, Serwas N, Deutschmann A, et al. Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency. J Allergy Clin Immunol. 2015;135:1384–1390.e8.PubMedPubMedCentralCrossRef
110.
Zurück zum Zitat Seidel MG, Bohm K, Dogu F, et al. Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation. J Allergy Clin Immunol. 2018;141(2):770–775. Seidel MG, Bohm K, Dogu F, et al. Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation. J Allergy Clin Immunol. 2018;141(2):770–775.
111.
Zurück zum Zitat Bakhtiar S, Gamez-Diaz L, Jarisch A, et al. Treatment of infantile inflammatory bowel disease and autoimmunity by allogeneic stem cell transplantation in LPS-responsive beige-like anchor deficiency. Front Immunol. 2017;8:52.PubMedPubMedCentralCrossRef Bakhtiar S, Gamez-Diaz L, Jarisch A, et al. Treatment of infantile inflammatory bowel disease and autoimmunity by allogeneic stem cell transplantation in LPS-responsive beige-like anchor deficiency. Front Immunol. 2017;8:52.PubMedPubMedCentralCrossRef
113.
Zurück zum Zitat Wing K, Yamaguchi T, Sakaguchi S. Cell-autonomous and -non-autonomous roles of CTLA-4 in immune regulation. Trends Immunol. 2011;32:428–33.PubMedCrossRef Wing K, Yamaguchi T, Sakaguchi S. Cell-autonomous and -non-autonomous roles of CTLA-4 in immune regulation. Trends Immunol. 2011;32:428–33.PubMedCrossRef
114.
Zurück zum Zitat Sakaguchi S, Wing K, Onishi Y, Prieto-Martin P, Yamaguchi T. Regulatory T cells: how do they suppress immune responses? Int Immunol. 2009;21:1105–11.PubMedCrossRef Sakaguchi S, Wing K, Onishi Y, Prieto-Martin P, Yamaguchi T. Regulatory T cells: how do they suppress immune responses? Int Immunol. 2009;21:1105–11.PubMedCrossRef
115.
Zurück zum Zitat Tivol EA, Borriello F, Schweitzer AN, Lynch WP, Bluestone JA, Sharpe AH. Loss of CTLA-4 leads to massive lymphoproliferation and fatal multiorgan tissue destruction, revealing a critical negative regulatory role of CTLA-4. Immunity. 1995;3:541–7.PubMedCrossRef Tivol EA, Borriello F, Schweitzer AN, Lynch WP, Bluestone JA, Sharpe AH. Loss of CTLA-4 leads to massive lymphoproliferation and fatal multiorgan tissue destruction, revealing a critical negative regulatory role of CTLA-4. Immunity. 1995;3:541–7.PubMedCrossRef
116.
Zurück zum Zitat Waterhouse P, Penninger JM, Timms E, Wakeham A, Shahinian A, Lee KP, et al. Lymphoproliferative disorders with early lethality in mice deficient in Ctla-4. Science. 1995;270:985–8.PubMedCrossRef Waterhouse P, Penninger JM, Timms E, Wakeham A, Shahinian A, Lee KP, et al. Lymphoproliferative disorders with early lethality in mice deficient in Ctla-4. Science. 1995;270:985–8.PubMedCrossRef
117.
Zurück zum Zitat Schubert D, Bode C, Kenefeck R, Hou TZ, Wing JB, Kennedy A, et al. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. Nat Med. 2014;20:1410–6.PubMedPubMedCentralCrossRef Schubert D, Bode C, Kenefeck R, Hou TZ, Wing JB, Kennedy A, et al. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. Nat Med. 2014;20:1410–6.PubMedPubMedCentralCrossRef
118.
Zurück zum Zitat Kuehn HS, Ouyang W, Lo B, Deenick EK, Niemela JE, Avery DT, et al. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. Science. 2014;345:1623–7.PubMedPubMedCentralCrossRef Kuehn HS, Ouyang W, Lo B, Deenick EK, Niemela JE, Avery DT, et al. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. Science. 2014;345:1623–7.PubMedPubMedCentralCrossRef
119.
Zurück zum Zitat Zeissig S, Petersen BS, Tomczak M, Melum E, Huc-Claustre E, Dougan SK, et al. Early-onset Crohn’s disease and autoimmunity associated with a variant in CTLA-4. Gut. 2015;64:1889–97.PubMedCrossRef Zeissig S, Petersen BS, Tomczak M, Melum E, Huc-Claustre E, Dougan SK, et al. Early-onset Crohn’s disease and autoimmunity associated with a variant in CTLA-4. Gut. 2015;64:1889–97.PubMedCrossRef
120.
Zurück zum Zitat Schwab C, Gabrysch A, Olbrich P, et al. Phenotype, penetrance, and treatment of 133 CTLA-4-insufficient individuals. J Allergy Clin Immunol. 2018;S0091-6749(18):30630–4. Schwab C, Gabrysch A, Olbrich P, et al. Phenotype, penetrance, and treatment of 133 CTLA-4-insufficient individuals. J Allergy Clin Immunol. 2018;S0091-6749(18):30630–4.
121.
Zurück zum Zitat Hayakawa S, Okada S, Tsumura M, Sakata S, Ueno Y, Imai K, et al. A patient with CTLA-4 haploinsufficiency presenting gastric cancer. J Clin Immunol. 2016;36:28–32.PubMedCrossRef Hayakawa S, Okada S, Tsumura M, Sakata S, Ueno Y, Imai K, et al. A patient with CTLA-4 haploinsufficiency presenting gastric cancer. J Clin Immunol. 2016;36:28–32.PubMedCrossRef
122.
Zurück zum Zitat Navarini AA, Hruz P, Berger CT, Hou TZ, Schwab C, Gabrysch A, et al. Vedolizumab as a successful treatment of CTLA-4-associated autoimmune enterocolitis. J Allergy Clin Immunol. 2017;139:1043–1046.e5.PubMedCrossRef Navarini AA, Hruz P, Berger CT, Hou TZ, Schwab C, Gabrysch A, et al. Vedolizumab as a successful treatment of CTLA-4-associated autoimmune enterocolitis. J Allergy Clin Immunol. 2017;139:1043–1046.e5.PubMedCrossRef
123.
Zurück zum Zitat Slatter MA, Engelhardt KR, Burroughs LM, Arkwright PD, Nademi Z, Skoda-Smith S, et al. Hematopoietic stem cell transplantation for CTLA4 deficiency. J Allergy Clin Immunol. 2016;138:615–619.e1.PubMedCrossRef Slatter MA, Engelhardt KR, Burroughs LM, Arkwright PD, Nademi Z, Skoda-Smith S, et al. Hematopoietic stem cell transplantation for CTLA4 deficiency. J Allergy Clin Immunol. 2016;138:615–619.e1.PubMedCrossRef
Metadaten
Titel
The Treatment of Inflammatory Bowel Disease in Patients with Selected Primary Immunodeficiencies
verfasst von
Dror S. Shouval
Matthew Kowalik
Scott B. Snapper
Publikationsdatum
29.06.2018
Verlag
Springer US
Erschienen in
Journal of Clinical Immunology / Ausgabe 5/2018
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-018-0524-9

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