title: Potential roles of activation-induced cytidine deaminase in promotion or prevention of autoimmunity in humans.
abstract: 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.
authors.affiliation: INSERM, Unité U768, Hôpital Necker Enfants-Malades, Paris, France. Anne.durandy@inserm.fr
authors.forename: Anne
authors.initials: A
authors.lastname: Durandy
authors.forename: Tineke
authors.initials: T
authors.lastname: Cantaert
authors.forename: Sven
authors.initials: S
authors.lastname: Kracker
authors.forename: Eric
authors.initials: E
authors.lastname: Meffre
mesh_terms: D000818:Animals; D001323:Autoantibodies / Q000096:biosynthesis / Q000276:immunology; D015551:Autoimmunity / Q000235:genetics / Q000276:immunology*; D001402:B-Lymphocytes / Q000276:immunology / Q000378:metabolism; D023201:CD40 Ligand / Q000172:deficiency / Q000235:genetics; D003564:Cytidine Deaminase / Q000172:deficiency / Q000235:genetics / Q000378:metabolism*; D005808:Genes, Recessive; D006801:Humans; D007108:Immune Tolerance / Q000235:genetics / Q000276:immunology; D017578:Immunoglobulin Class Switching; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000276:immunology; D027041:Somatic Hypermutation, Immunoglobulin; D000098830:AICDA (Activation-Induced Cytidine Deaminase)
chemical_list: D001323:Autoantibodies; D023201:CD40 Ligand; D000098830:AICDA (Activation-Induced Cytidine Deaminase); D003564:Cytidine Deaminase