Potential roles of activation-induced cytidine deaminase in promotion or prevention of autoimmunity in humans

Autoimmune manifestations are paradoxical and frequent complications of primary immunodeficiencies, including T and/or B cell defects. Among pure B cell defects, the Activation-induced cytidine Deaminase (AID)-deficiency, characterized by a complete lack of immunoglobulin class switch recombination...

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Bibliographic Details
Published in:Autoimmunity (Chur, Switzerland) Switzerland), 2013-03, Vol.46 (2), p.148-156
Main Authors: Durandy, Anne, Cantaert, Tineke, Kracker, Sven, Meffre, Eric
Format: Article
Language:English
Subjects:
Animals
Autoantibodies - biosynthesis
Autoantibodies - immunology
Autoimmunity - genetics
Autoimmunity - immunology
B-Lymphocytes - immunology
B-Lymphocytes - metabolism
CD40 Ligand - deficiency
CD40 Ligand - genetics
class switch recombination-deficiency
Cytidine Deaminase - deficiency
Cytidine Deaminase - genetics
Cytidine Deaminase - metabolism
Genes, Recessive
Humans
Immune Tolerance - genetics
Immune Tolerance - immunology
Immunoglobulin Class Switching
Immunologic Deficiency Syndromes - genetics
Immunologic Deficiency Syndromes - immunology
Primary immunodeficiency
Somatic Hypermutation, Immunoglobulin
tolerance
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Summary:Autoimmune manifestations are paradoxical and frequent complications of primary immunodeficiencies, including T and/or B cell defects. Among pure B cell defects, the Activation-induced cytidine Deaminase (AID)-deficiency, characterized by a complete lack of immunoglobulin class switch recombination and somatic hypermutation, is especially complicated by autoimmune disorders. We summarized in this review the different autoimmune and inflammatory manifestations present in 13 patients out of a cohort of 45 patients. Moreover, we also review the impact of AID mutations on B-cell tolerance and discuss hypotheses that may explain why central and peripheral B-cell tolerance was abnormal in the absence of functional AID. Hence, AID plays an essential role in controlling autoreactive B cells in humans and prevents the development of autoimmune syndromes.
ISSN:0891-6934
1607-842X
DOI:10.3109/08916934.2012.750299