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Erschienen in: Clinical Rheumatology 4/2016

14.03.2016 | Review Article

Rheumatologic manifestations of primary immunodeficiency diseases

verfasst von: V. R. Dimitriades, R. Sorensen

Erschienen in: Clinical Rheumatology | Ausgabe 4/2016

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Abstract

In the last 5 years, several hundred articles have been published concerning the link between primary immunodeficiency disease (PID) and rheumatologic diseases. Although rheumatologic complications were originally thought to be at the opposite ends of the spectrum of immunopathologic manifestations, they are now all being considered secondary manifestations of a causative primary “immune derangement.” For the rheumatologist, it is important to be able to identify patients who may present with typical rheumatologic findings but who have an underlying PID. In a systematic manner, this overview addresses both the systemic and organ-based rheumatologic diseases which have known associations with primary immunodeficiencies, and explores how immunodeficiency may actually cause these clinical manifestations.
Literatur
1.
Zurück zum Zitat Barsalou J, Saint-Cyr C, Drouin E et al (2011) High prevalence of primary immune deficiencies in children with autoimmune disorders. Clin Exp Rheumatol 29:125–130PubMed Barsalou J, Saint-Cyr C, Drouin E et al (2011) High prevalence of primary immune deficiencies in children with autoimmune disorders. Clin Exp Rheumatol 29:125–130PubMed
2.
Zurück zum Zitat Jesus AA, Liphaus B, Silva C et al (2011) Complement and antibody primary immunodeficiency in juvenile systemic lupus erythematosus patients. Lupus 20:1275–1284CrossRefPubMed Jesus AA, Liphaus B, Silva C et al (2011) Complement and antibody primary immunodeficiency in juvenile systemic lupus erythematosus patients. Lupus 20:1275–1284CrossRefPubMed
3.
Zurück zum Zitat Spârchez M, Lupan I, Delean D et al (2015) Primary complement and antibody deficiencies in autoimmune rheumatologic diseases with juvenile onset: a prospective study at two centers. Pediatric Rheum 13:51CrossRef Spârchez M, Lupan I, Delean D et al (2015) Primary complement and antibody deficiencies in autoimmune rheumatologic diseases with juvenile onset: a prospective study at two centers. Pediatric Rheum 13:51CrossRef
4.
Zurück zum Zitat Todoric K, Koontz JB, Mattox D et al (2013) Autoimmunity in immunodeficiency. Curr All Asth Rep 13:361–370CrossRef Todoric K, Koontz JB, Mattox D et al (2013) Autoimmunity in immunodeficiency. Curr All Asth Rep 13:361–370CrossRef
5.
Zurück zum Zitat Picard C, Al-Herz W, Bousfiha A et al (2015) Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. J Clin Immunol 35(8):696–726CrossRefPubMedPubMedCentral Picard C, Al-Herz W, Bousfiha A et al (2015) Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. J Clin Immunol 35(8):696–726CrossRefPubMedPubMedCentral
6.
Zurück zum Zitat Aringer M, Günther C, Lee-Kirsch MA (2013) Innate immune processes in lupus erythematosus. Clin Immunol 147(3):216–22CrossRefPubMed Aringer M, Günther C, Lee-Kirsch MA (2013) Innate immune processes in lupus erythematosus. Clin Immunol 147(3):216–22CrossRefPubMed
7.
Zurück zum Zitat Stegert M, Bocka M, Trendelenburg M (2015) Clinical presentation of human C1q deficiency: how much of a lupus? Mol Immunol 67:3–11CrossRefPubMed Stegert M, Bocka M, Trendelenburg M (2015) Clinical presentation of human C1q deficiency: how much of a lupus? Mol Immunol 67:3–11CrossRefPubMed
8.
Zurück zum Zitat Torgerson T (2012) Immunodeficiency diseases with rheumatic manifestations. Ped Clin N Am 59:493–507CrossRef Torgerson T (2012) Immunodeficiency diseases with rheumatic manifestations. Ped Clin N Am 59:493–507CrossRef
9.
Zurück zum Zitat Sanford AN, Suriano AR, Herche D et al (2006) Abnormal apoptosis in chronic granulomatous disease and autoantibody production characteristic of lupus. Rheumatology 45:178–181CrossRefPubMed Sanford AN, Suriano AR, Herche D et al (2006) Abnormal apoptosis in chronic granulomatous disease and autoantibody production characteristic of lupus. Rheumatology 45:178–181CrossRefPubMed
10.
Zurück zum Zitat Kraaij MD, Savage N, van der Kooij S et al (2010) Induction of regulatory T cells by macrophages is dependent on production of reactive oxygen species. Proc Nat Acad Sci 107:17686–17691CrossRefPubMedPubMedCentral Kraaij MD, Savage N, van der Kooij S et al (2010) Induction of regulatory T cells by macrophages is dependent on production of reactive oxygen species. Proc Nat Acad Sci 107:17686–17691CrossRefPubMedPubMedCentral
11.
Zurück zum Zitat De Ravin SS, Naumann N, Cowen E et al (2008) Chronic granulomatous disease as a risk factor for autoimmune disease. J All Clin Immunol 122(6):1097–1103CrossRef De Ravin SS, Naumann N, Cowen E et al (2008) Chronic granulomatous disease as a risk factor for autoimmune disease. J All Clin Immunol 122(6):1097–1103CrossRef
12.
13.
Zurück zum Zitat Sordet C, Cantagrel A, Schaeverbeke T et al (2005) Bone and joint disease associated with primary immune deficiencies. Joint Bone Spine 72(6):503–14CrossRefPubMed Sordet C, Cantagrel A, Schaeverbeke T et al (2005) Bone and joint disease associated with primary immune deficiencies. Joint Bone Spine 72(6):503–14CrossRefPubMed
14.
Zurück zum Zitat Pessach I, Notarangelo L (2009) X-linked primary immunodeficiencies as a bridge to better understanding X-chromosome related autoimmunity. J Autoimmunity 33:17–24CrossRef Pessach I, Notarangelo L (2009) X-linked primary immunodeficiencies as a bridge to better understanding X-chromosome related autoimmunity. J Autoimmunity 33:17–24CrossRef
15.
Zurück zum Zitat Howard V, Greene J, Pahwa S et al (2006) The health status and quality of life of adults with X-linked agammaglobulinemia. Clin Immunol 118:201–208CrossRefPubMed Howard V, Greene J, Pahwa S et al (2006) The health status and quality of life of adults with X-linked agammaglobulinemia. Clin Immunol 118:201–208CrossRefPubMed
16.
Zurück zum Zitat Hernandez-Trujillo VP, Scalchunes C, Cunningham-Rundles C et al (2014) Autoimmunity and inflammation in X-linked agammaglobulinemia. J Clin Immunol 34(6):627–32CrossRefPubMedPubMedCentral Hernandez-Trujillo VP, Scalchunes C, Cunningham-Rundles C et al (2014) Autoimmunity and inflammation in X-linked agammaglobulinemia. J Clin Immunol 34(6):627–32CrossRefPubMedPubMedCentral
17.
Zurück zum Zitat McLean-Tooke A, Spickett GP, Gennery AR (2007) Immunodeficiency and autoimmunity in 22q11.2 deletion syndrome. Scan J Immunol 66:1–7CrossRef McLean-Tooke A, Spickett GP, Gennery AR (2007) Immunodeficiency and autoimmunity in 22q11.2 deletion syndrome. Scan J Immunol 66:1–7CrossRef
18.
Zurück zum Zitat Cron RQ, Sullivan KE (2006) Chronic arthritis without uveitis in velocardiofacial syndrome. J Pediatr 149(2):281CrossRefPubMed Cron RQ, Sullivan KE (2006) Chronic arthritis without uveitis in velocardiofacial syndrome. J Pediatr 149(2):281CrossRefPubMed
19.
Zurück zum Zitat Pelkonen P, Lahdenne P, Lantto R et al (2002) Chronic arthritis associated with chromosome deletion 22q11.2 syndrome. J Rheumatol 29(12):2648–50PubMed Pelkonen P, Lahdenne P, Lantto R et al (2002) Chronic arthritis associated with chromosome deletion 22q11.2 syndrome. J Rheumatol 29(12):2648–50PubMed
20.
Zurück zum Zitat Depuis-Girod S, Medioni J, Haddad E et al (2003) Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. Pediatrics 111:622–627CrossRef Depuis-Girod S, Medioni J, Haddad E et al (2003) Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. Pediatrics 111:622–627CrossRef
21.
Zurück zum Zitat Akmen I, Ostrov B, Neudorf S (1998) Autoimmune manifestations of the Wiskott-Aldrich syndrome. Semin Arthritis Rheum 27(4):218–25CrossRef Akmen I, Ostrov B, Neudorf S (1998) Autoimmune manifestations of the Wiskott-Aldrich syndrome. Semin Arthritis Rheum 27(4):218–25CrossRef
22.
Zurück zum Zitat Hill F, Yonkof J, Chaitanya Arudra SK et al (2015) Successful treatment of ANCA-associated vasculitis in the setting of common variable immunodeficiency using rituximab. Am J Ther. DOI: 10.1097/MJT.0000000000000323 Hill F, Yonkof J, Chaitanya Arudra SK et al (2015) Successful treatment of ANCA-associated vasculitis in the setting of common variable immunodeficiency using rituximab. Am J Ther. DOI: 10.​1097/​MJT.​0000000000000323​
23.
Zurück zum Zitat Catucci M, Castiello MD, Pala F et al (2012) Autoimmunity in Wiskott-Aldrich syndrome: an unsolved enigma. Front Immunol 18(3):209 Catucci M, Castiello MD, Pala F et al (2012) Autoimmunity in Wiskott-Aldrich syndrome: an unsolved enigma. Front Immunol 18(3):209
24.
Zurück zum Zitat Atkinson TP (2012) Immune deficiency and autoimmunity. Curr Op Rheum 24:515–521CrossRef Atkinson TP (2012) Immune deficiency and autoimmunity. Curr Op Rheum 24:515–521CrossRef
25.
Zurück zum Zitat Goyal R, Bulua A, Nikolov N et al (2009) Rheumatologic and autoimmune manifestations of primary immunodeficiency disorders. Curr Op Rheum 21:78–84CrossRef Goyal R, Bulua A, Nikolov N et al (2009) Rheumatologic and autoimmune manifestations of primary immunodeficiency disorders. Curr Op Rheum 21:78–84CrossRef
26.
Zurück zum Zitat Arason GJ, Jorgensen GH, Ludviksson BR (2010) Primary immunodeficiency and autoimmunity: lessons from human diseases. Scan J Immunol 71:317–328CrossRef Arason GJ, Jorgensen GH, Ludviksson BR (2010) Primary immunodeficiency and autoimmunity: lessons from human diseases. Scan J Immunol 71:317–328CrossRef
27.
Zurück zum Zitat Bussone G, Mouthon L (2009) Autoimmune manifestations in primary immune deficiencies. Autoimm Rev 8:332–336CrossRef Bussone G, Mouthon L (2009) Autoimmune manifestations in primary immune deficiencies. Autoimm Rev 8:332–336CrossRef
28.
Zurück zum Zitat De Ravin SS, Naumann N, Robinson M (2006) Sarcoidosis in chronic granulomatous disease. Pediatrics 117:591–595CrossRef De Ravin SS, Naumann N, Robinson M (2006) Sarcoidosis in chronic granulomatous disease. Pediatrics 117:591–595CrossRef
29.
Zurück zum Zitat Moraes-Vansconcelos D, Costa-Carvalho BT, Torgerson T et al (2008) Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED. J Clin Immunol 28(Suppl 1):S11–S19CrossRef Moraes-Vansconcelos D, Costa-Carvalho BT, Torgerson T et al (2008) Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED. J Clin Immunol 28(Suppl 1):S11–S19CrossRef
30.
Zurück zum Zitat Verbsky J, Routes J (2014) Sarcoidosis and common variable immunodeficiency: similarities and differences. Semin Respir Crit Care Med 35:330–335CrossRefPubMed Verbsky J, Routes J (2014) Sarcoidosis and common variable immunodeficiency: similarities and differences. Semin Respir Crit Care Med 35:330–335CrossRefPubMed
31.
Zurück zum Zitat Wernantz K, Voll R (2012) Pathogenensis of autoimmunity in common variable immunodeficiency. Front Immunol 18(3):210 Wernantz K, Voll R (2012) Pathogenensis of autoimmunity in common variable immunodeficiency. Front Immunol 18(3):210
32.
33.
Zurück zum Zitat Legger GE, Wulffraat NM, van Montfrans JM (2016) Chapter 46: immunodeficiencies and the rheumatic diseases. In: Cassidy and Petty’s (ed) Textbook of pediatric rheumatology (7th ed.)., pp 597–608, e5CrossRef Legger GE, Wulffraat NM, van Montfrans JM (2016) Chapter 46: immunodeficiencies and the rheumatic diseases. In: Cassidy and Petty’s (ed) Textbook of pediatric rheumatology (7th ed.)., pp 597–608, e5CrossRef
34.
Zurück zum Zitat Jesus A, Duarte A, Oliveira J (2008) Autoimmunity in hyper-IgM syndrome. J Clin Immunol 28(Suppl 1):S62–S66CrossRefPubMed Jesus A, Duarte A, Oliveira J (2008) Autoimmunity in hyper-IgM syndrome. J Clin Immunol 28(Suppl 1):S62–S66CrossRefPubMed
36.
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 18(3):211 Barzaghi F, Passerini L, Bacchetta R (2012) Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: a paradigm of immunodeficiency with autoimmunity. Front Immunol 18(3):211
37.
Zurück zum Zitat Singh K, Chang C, Gershwin ME (2014) IgA deficiency and autoimmunity. Autoimm Rev 13:163–177CrossRef Singh K, Chang C, Gershwin ME (2014) IgA deficiency and autoimmunity. Autoimm Rev 13:163–177CrossRef
38.
Zurück zum Zitat Weber-Mzell D, Kotanko P, Hauer AC et al (2004) Gender, age and seasonal effects on IgA deficiency: a study of 7293 Caucasians. Eur J Clin Invest 34(3):224–8CrossRefPubMed Weber-Mzell D, Kotanko P, Hauer AC et al (2004) Gender, age and seasonal effects on IgA deficiency: a study of 7293 Caucasians. Eur J Clin Invest 34(3):224–8CrossRefPubMed
39.
Zurück zum Zitat Jacob C, Pastorino A, Fahl K et al (2008) Autoimmunity in IgA deficiency: revisiting the role of IgA as a silent housekeeper. J Clin Immunol 28(Suppl 1):S56–S61CrossRefPubMed Jacob C, Pastorino A, Fahl K et al (2008) Autoimmunity in IgA deficiency: revisiting the role of IgA as a silent housekeeper. J Clin Immunol 28(Suppl 1):S56–S61CrossRefPubMed
40.
Zurück zum Zitat Agarwal S, Mayer L (2013) Diagnosis and treatment of gastrointestinal disorders in patients with primary immunodeficiency. Clin Gastroenterol Hepatol 11(9):1050–63CrossRefPubMedPubMedCentral Agarwal S, Mayer L (2013) Diagnosis and treatment of gastrointestinal disorders in patients with primary immunodeficiency. Clin Gastroenterol Hepatol 11(9):1050–63CrossRefPubMedPubMedCentral
41.
Zurück zum Zitat Maggadottir S, Sullivan K (2014) The intersection of immune deficiency and autoimmunity. Curr Op Rheum 26:570–578CrossRef Maggadottir S, Sullivan K (2014) The intersection of immune deficiency and autoimmunity. Curr Op Rheum 26:570–578CrossRef
42.
Zurück zum Zitat Milner J, Fasth A, Etzioni A (2008) Autoimmunity in severe combined immunodeficiency (SCID): lessons from patients and experimental models. J Clin Immunol 28(Suppl 1):S29–S33CrossRefPubMed Milner J, Fasth A, Etzioni A (2008) Autoimmunity in severe combined immunodeficiency (SCID): lessons from patients and experimental models. J Clin Immunol 28(Suppl 1):S29–S33CrossRefPubMed
43.
44.
Zurück zum Zitat Martín-Santiago A, Hervás JA, Hervás D et al (2013) Diagnostic value of the skin lesions in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Pediatr Dermatol 30(6):e221–2CrossRefPubMed Martín-Santiago A, Hervás JA, Hervás D et al (2013) Diagnostic value of the skin lesions in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Pediatr Dermatol 30(6):e221–2CrossRefPubMed
45.
Zurück zum Zitat Sillevis Smitt JH, Kuijpers TW (2013) Cutaneous manifestations of primary immunodeficiency. Curr Opin Pediatr 25(4):492–7CrossRefPubMed Sillevis Smitt JH, Kuijpers TW (2013) Cutaneous manifestations of primary immunodeficiency. Curr Opin Pediatr 25(4):492–7CrossRefPubMed
47.
Zurück zum Zitat Glerup M, Herlin T, Rittig S et al (2013) Tubulointerstitial nephritis in a patient with probable autoimmune lymphoproliferative syndrome. J Pediatr Hema Oncol 35(5):e187–9CrossRef Glerup M, Herlin T, Rittig S et al (2013) Tubulointerstitial nephritis in a patient with probable autoimmune lymphoproliferative syndrome. J Pediatr Hema Oncol 35(5):e187–9CrossRef
48.
Zurück zum Zitat Cleland SY, Siegel R (2011) Wiskott–Aldrich syndrome at the nexus of autoimmune and primary immunodeficiency diseases. FEBS Lett 585:3710–3714CrossRefPubMedPubMedCentral Cleland SY, Siegel R (2011) Wiskott–Aldrich syndrome at the nexus of autoimmune and primary immunodeficiency diseases. FEBS Lett 585:3710–3714CrossRefPubMedPubMedCentral
Metadaten
Titel
Rheumatologic manifestations of primary immunodeficiency diseases
verfasst von
V. R. Dimitriades
R. Sorensen
Publikationsdatum
14.03.2016
Verlag
Springer London
Erschienen in
Clinical Rheumatology / Ausgabe 4/2016
Print ISSN: 0770-3198
Elektronische ISSN: 1434-9949
DOI
https://doi.org/10.1007/s10067-016-3229-6

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