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PMID: 23215867 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review

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

Autoimmunity ·Vol. 46 ·No. 2 ·2013-03-00 ·Pages 148-56

Durandy A, Cantaert T, Kracker S, Meffre E

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.

MeSH Terms
Animals Autoantibodies/biosynthesis,immunology Autoimmunity/genetics,immunology B-Lymphocytes/immunology,metabolism CD40 Ligand/deficiency,genetics Cytidine Deaminase/deficiency,genetics,metabolism Genes, Recessive Humans Immune Tolerance/genetics,immunology Immunoglobulin Class Switching Immunologic Deficiency Syndromes/genetics,immunology Somatic Hypermutation, Immunoglobulin
Chemicals
Autoantibodies CD40 Ligand AICDA (activation-induced cytidine deaminase) Cytidine Deaminase
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Durandy Anne
INSERM, Unité U768, Hôpital Necker Enfants-Malades, Paris, France. Anne.durandy@inserm.fr
Cantaert Tineke
Kracker Sven
Meffre Eric
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Article Info
Journal
Autoimmunity
Abbr.
Autoimmunity
ISSN
1607-842X
DOI
10.3109/08916934.2012.750299
Email
anne.durandy@inserm.fr
Published
2013-03-00
Epub
2013-00-10
Pages
148-56
Language
English
Region
England
NLM ID
8900070
PMCID
PMC4077434
Subset
IM
Grants
NIAID NIH HHS · AI095848 · United States
NIAID NIH HHS · R01 AI071087 · United States
NIAID NIH HHS · AI071087 · United States
NIAID NIH HHS · P01 AI061093 · United States
NIAID NIH HHS · AI082713 · United States
NIAID NIH HHS · U19 AI082713 · United States
NIAID NIH HHS · R21 AI095848 · United States
NIAID NIH HHS · AI061093 · United States
External Links
PubMed source DOI: 10.3109/08916934.2012.750299 PMC Full Text View journal details
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