Skip to main content
Erschienen in: Journal of Clinical Immunology 1/2008

01.05.2008

Autoimmune Manifestations in Common Variable Immunodeficiency

verfasst von: C. Cunningham-Rundles

Erschienen in: Journal of Clinical Immunology | Sonderheft 1/2008

Einloggen, um Zugang zu erhalten

Abstract

Introduction

About 20% of subjects with common variable immune deficiency (CVID) develop an autoimmune complication, most often immune thrombocytopenia or hemolytic anemia. While the pathogenesis of autoreactivity is unknown for CVID subjects in general, and to a greater extent in those with autoimmunity, there is a loss of switched memory B cells.

Discussion

About 7–8% of CVID subjects have mutations in the transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI), a significant association with this immune defect, although the same mutations may be found in normal relatives and rarely in healthy blood donors. In addition to generalized B cell dysfunction, defective elimination of autoimmune B cells has been demonstrated.
Literatur
1.
Zurück zum Zitat Knight AK, Cunningham-Rundles C. Inflammatory and autoimmune complications of common variable immune deficiency. Autoimmun Rev 2006;5:156–9.PubMedCrossRef Knight AK, Cunningham-Rundles C. Inflammatory and autoimmune complications of common variable immune deficiency. Autoimmun Rev 2006;5:156–9.PubMedCrossRef
2.
Zurück zum Zitat Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol 1999;92:34–48.PubMedCrossRef Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol 1999;92:34–48.PubMedCrossRef
3.
Zurück zum Zitat Quinti I, Soresina A, Spadaro G, Martino S, Donnanno S, Agostini C, et al. Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency. J Clin Immunol 2007;27:308–16.PubMedCrossRef Quinti I, Soresina A, Spadaro G, Martino S, Donnanno S, Agostini C, et al. Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency. J Clin Immunol 2007;27:308–16.PubMedCrossRef
4.
Zurück zum Zitat Wang J, Cunningham-Rundles C. Treatment and outcome of autoimmune hematologic disease in common variable immunodeficiency (CVID). J Autoimmun 2005;25:57–62.PubMedCrossRef Wang J, Cunningham-Rundles C. Treatment and outcome of autoimmune hematologic disease in common variable immunodeficiency (CVID). J Autoimmun 2005;25:57–62.PubMedCrossRef
5.
Zurück zum Zitat Cunningham-Rundles C. Common variable immunodeficiency. Curr Allergy Asthma Rep 2001;1:421–9.PubMedCrossRef Cunningham-Rundles C. Common variable immunodeficiency. Curr Allergy Asthma Rep 2001;1:421–9.PubMedCrossRef
6.
Zurück zum Zitat Michel M, Chanet V, Galicier L, Ruivard M, Levy Y, Hermine O, et al. Autoimmune thrombocytopenic purpura and common variable immunodeficiency: analysis of 21 cases and review of the literature. Medicine (Baltimore) 2004;83:254–63.CrossRef Michel M, Chanet V, Galicier L, Ruivard M, Levy Y, Hermine O, et al. Autoimmune thrombocytopenic purpura and common variable immunodeficiency: analysis of 21 cases and review of the literature. Medicine (Baltimore) 2004;83:254–63.CrossRef
7.
Zurück zum Zitat Brouet JC, Chedeville A, Fermand JP, Royer B. Study of the B cell memory compartment in common variable immunodeficiency. Eur J Immunol 2000;30:2516–20.PubMedCrossRef Brouet JC, Chedeville A, Fermand JP, Royer B. Study of the B cell memory compartment in common variable immunodeficiency. Eur J Immunol 2000;30:2516–20.PubMedCrossRef
8.
Zurück zum Zitat Agematsu K, Futatani T, Hokibara S, Kobayashi N, Takamoto M, Tsukada S, et al. Absence of memory B cells in patients with common variable immunodeficiency. Clin Immunol 2002;103:34–42.PubMedCrossRef Agematsu K, Futatani T, Hokibara S, Kobayashi N, Takamoto M, Tsukada S, et al. Absence of memory B cells in patients with common variable immunodeficiency. Clin Immunol 2002;103:34–42.PubMedCrossRef
9.
Zurück zum Zitat Warnatz K, Denz A, Drager R, Braun M, Groth C, Wolff-Vorbeck G, et al. Severe deficiency of switched memory B cells (CD27(+)IgM(−)IgD(−)) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease. Blood 2002;99:1544–51.PubMedCrossRef Warnatz K, Denz A, Drager R, Braun M, Groth C, Wolff-Vorbeck G, et al. Severe deficiency of switched memory B cells (CD27(+)IgM(−)IgD(−)) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease. Blood 2002;99:1544–51.PubMedCrossRef
10.
Zurück zum Zitat Wehr C, Kivioja T, Schmitt C, Ferry B, Witte T, Eren E, et al. The EUROclass trial: defining subgroups in common variable immunodeficiency. Blood 2008;111:77–85.PubMedCrossRef Wehr C, Kivioja T, Schmitt C, Ferry B, Witte T, Eren E, et al. The EUROclass trial: defining subgroups in common variable immunodeficiency. Blood 2008;111:77–85.PubMedCrossRef
11.
Zurück zum Zitat Ko J, Radigan L, Cunningham-Rundles C. Immune competence and switched memory B cells in common variable immunodeficiency. Clin Immunol 2005;116:37–41.PubMedCrossRef Ko J, Radigan L, Cunningham-Rundles C. Immune competence and switched memory B cells in common variable immunodeficiency. Clin Immunol 2005;116:37–41.PubMedCrossRef
12.
Zurück zum Zitat Alachkar H, Taubenheim N, Haeney MR, Durandy A, Arkwright PD. Memory switched B cell percentage and not serum immunoglobulin concentration is associated with clinical complications in children and adults with specific antibody deficiency and common variable immunodeficiency. Clin Immunol 2006;120:310–8.PubMedCrossRef Alachkar H, Taubenheim N, Haeney MR, Durandy A, Arkwright PD. Memory switched B cell percentage and not serum immunoglobulin concentration is associated with clinical complications in children and adults with specific antibody deficiency and common variable immunodeficiency. Clin Immunol 2006;120:310–8.PubMedCrossRef
13.
Zurück zum Zitat Fasano MB, Sullivan KE, Sarpong SB, Wood RA, Jones SM, Johns CJ, et al. Sarcoidosis and common variable immunodeficiency. Report of 8 cases and review of the literature. Medicine (Baltimore) 1996;75:251–61.CrossRef Fasano MB, Sullivan KE, Sarpong SB, Wood RA, Jones SM, Johns CJ, et al. Sarcoidosis and common variable immunodeficiency. Report of 8 cases and review of the literature. Medicine (Baltimore) 1996;75:251–61.CrossRef
14.
Zurück zum Zitat Mechanic LJ, Dikman S, Cunningham-Rundles C. Granulomatous disease in common variable immunodeficiency. Ann Intern Med 1997;127:613–7.PubMed Mechanic LJ, Dikman S, Cunningham-Rundles C. Granulomatous disease in common variable immunodeficiency. Ann Intern Med 1997;127:613–7.PubMed
15.
Zurück zum Zitat Salzer U, Chapel H, Webster AD, Schlesier M, Draeger R, Schmitt-Graff A, et al. Mutations in TACI are associated with immunodeficient phenotypes in humans. Clinical Immunology 2005;115(suppl 1):S29. Salzer U, Chapel H, Webster AD, Schlesier M, Draeger R, Schmitt-Graff A, et al. Mutations in TACI are associated with immunodeficient phenotypes in humans. Clinical Immunology 2005;115(suppl 1):S29.
16.
Zurück zum Zitat Castigli E, Wilson SA, Garibyan L, Rachid R, Bonilla F, Schneider L, et al. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet 2005;37:829–34.PubMedCrossRef Castigli E, Wilson SA, Garibyan L, Rachid R, Bonilla F, Schneider L, et al. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet 2005;37:829–34.PubMedCrossRef
17.
Zurück zum Zitat Salzer U, Chapel HM, Webster AD, Pan-Hammarstrom Q, Schmitt-Graeff A, Schlesier M, et al. Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet 2005;37:820–8.PubMedCrossRef Salzer U, Chapel HM, Webster AD, Pan-Hammarstrom Q, Schmitt-Graeff A, Schlesier M, et al. Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet 2005;37:820–8.PubMedCrossRef
18.
Zurück zum Zitat Pan-Hammarstrom Q, Salzer U, Du L, Bjorkander J, Cunningham-Rundles C, Nelson DL, et al. Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat Genet 2007;39:429–30.PubMedCrossRef Pan-Hammarstrom Q, Salzer U, Du L, Bjorkander J, Cunningham-Rundles C, Nelson DL, et al. Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat Genet 2007;39:429–30.PubMedCrossRef
19.
Zurück zum Zitat Zhang L, Radigan L, Salzer U, Behrens TW, Grimbacher B, Diaz G, et al. Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: clinical and immunologic outcomes in heterozygotes. J Allergy Clin Immunol 2007;120:1178–85.PubMedCrossRef Zhang L, Radigan L, Salzer U, Behrens TW, Grimbacher B, Diaz G, et al. Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: clinical and immunologic outcomes in heterozygotes. J Allergy Clin Immunol 2007;120:1178–85.PubMedCrossRef
20.
Zurück zum Zitat Ng YS, Wardemann H, Chelnis J, Cunningham-Rundles C, Meffre E. Bruton’s tyrosine kinase is essential for human B cell tolerance. J Exp Med 2004;200:927–34.PubMedCrossRef Ng YS, Wardemann H, Chelnis J, Cunningham-Rundles C, Meffre E. Bruton’s tyrosine kinase is essential for human B cell tolerance. J Exp Med 2004;200:927–34.PubMedCrossRef
21.
Zurück zum Zitat Herve M, Isnardi I, Ng YS, Bussel JB, Ochs HD, Cunningham-Rundles C, et al. CD40 ligand and MHC class II expression are essential for human peripheral B cell tolerance. J Exp Med 2007;204:1583–93.PubMedCrossRef Herve M, Isnardi I, Ng YS, Bussel JB, Ochs HD, Cunningham-Rundles C, et al. CD40 ligand and MHC class II expression are essential for human peripheral B cell tolerance. J Exp Med 2007;204:1583–93.PubMedCrossRef
22.
Zurück zum Zitat Farrington M, Grosmaire LS, Nonoyama S, Fischer SH, Hollenbaugh D, Ledbetter JA, et al. CD40 ligand expression is defective in a subset of patients with common variable immunodeficiency. Proc Natl Acad Sci U S A 1994;91:1099–103.PubMedCrossRef Farrington M, Grosmaire LS, Nonoyama S, Fischer SH, Hollenbaugh D, Ledbetter JA, et al. CD40 ligand expression is defective in a subset of patients with common variable immunodeficiency. Proc Natl Acad Sci U S A 1994;91:1099–103.PubMedCrossRef
23.
Zurück zum Zitat Knight AK, Radigan L, Marron T, Langs A, Zhang L, Cunningham-Rundles C. High serum levels of BAFF, APRIL, and TACI in common variable immunodeficiency. Clin Immunol 2007;124:182–9.PubMedCrossRef Knight AK, Radigan L, Marron T, Langs A, Zhang L, Cunningham-Rundles C. High serum levels of BAFF, APRIL, and TACI in common variable immunodeficiency. Clin Immunol 2007;124:182–9.PubMedCrossRef
24.
Zurück zum Zitat Giulino LB, Bussel JB, Neufeld EJ. Treatment with rituximab in benign and malignant hematologic disorders in children. J Pediatr 2007;150:338–44. 344.e1.PubMedCrossRef Giulino LB, Bussel JB, Neufeld EJ. Treatment with rituximab in benign and malignant hematologic disorders in children. J Pediatr 2007;150:338–44. 344.e1.PubMedCrossRef
25.
Zurück zum Zitat Godeau B, Provan D, Bussel J. Immune thrombocytopenic purpura in adults. Curr Opin Hematol 2007;14:535–56.PubMedCrossRef Godeau B, Provan D, Bussel J. Immune thrombocytopenic purpura in adults. Curr Opin Hematol 2007;14:535–56.PubMedCrossRef
26.
Zurück zum Zitat Carbone J, Escudero A, Mayayo M, Ballesteros M, Perez-Corral A, Sanchez-Ramon S, et al. Partial response to anti-CD20 monoclonal antibody treatment of severe immune thrombocytopenic purpura in a patient with common variable immunodeficiency. Ann N Y Acad Sci 2005;1051:666–71.PubMedCrossRef Carbone J, Escudero A, Mayayo M, Ballesteros M, Perez-Corral A, Sanchez-Ramon S, et al. Partial response to anti-CD20 monoclonal antibody treatment of severe immune thrombocytopenic purpura in a patient with common variable immunodeficiency. Ann N Y Acad Sci 2005;1051:666–71.PubMedCrossRef
Metadaten
Titel
Autoimmune Manifestations in Common Variable Immunodeficiency
verfasst von
C. Cunningham-Rundles
Publikationsdatum
01.05.2008
Verlag
Springer US
Erschienen in
Journal of Clinical Immunology / Ausgabe Sonderheft 1/2008
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-008-9182-7

Weitere Artikel der Sonderheft 1/2008

Journal of Clinical Immunology 1/2008 Zur Ausgabe

Leitlinien kompakt für die Innere Medizin

Mit medbee Pocketcards sicher entscheiden.

Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag

Update Innere Medizin

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.