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

Autoimmunity. 2013 Mar;46(2):148-56. doi: 10.3109/08916934.2012.750299. Epub 2013 Jan 10.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Autoantibodies / biosynthesis
  • Autoantibodies / immunology
  • Autoimmunity / genetics
  • Autoimmunity / immunology*
  • B-Lymphocytes / immunology
  • B-Lymphocytes / metabolism
  • CD40 Ligand / deficiency
  • CD40 Ligand / genetics
  • 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
  • Somatic Hypermutation, Immunoglobulin

Substances

  • Autoantibodies
  • CD40 Ligand
  • AICDA (activation-induced cytidine deaminase)
  • Cytidine Deaminase