Activation-induced cytidine deaminase deficiency causes organ-specific autoimmune disease.

Activation-induced cytidine deaminase (AID) expressed by germinal center B cells is a central regulator of somatic hypermutation (SHM) and class switch recombination (CSR). Humans with AID mutations develop not only the autosomal recessive form of hyper-IgM syndrome (HIGM2) associated with B cell hy...

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Main Authors: Koji Hase, Daisuke Takahashi, Masashi Ebisawa, Sayaka Kawano, Kikuji Itoh, Hiroshi Ohno
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2008-08-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0003033
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author Koji Hase
Daisuke Takahashi
Masashi Ebisawa
Sayaka Kawano
Kikuji Itoh
Hiroshi Ohno
author_facet Koji Hase
Daisuke Takahashi
Masashi Ebisawa
Sayaka Kawano
Kikuji Itoh
Hiroshi Ohno
author_sort Koji Hase
collection DOAJ
description Activation-induced cytidine deaminase (AID) expressed by germinal center B cells is a central regulator of somatic hypermutation (SHM) and class switch recombination (CSR). Humans with AID mutations develop not only the autosomal recessive form of hyper-IgM syndrome (HIGM2) associated with B cell hyperplasia, but also autoimmune disorders by unknown mechanisms. We report here that AID-/- mice spontaneously develop tertiary lymphoid organs (TLOs) in non-lymphoid tissues including the stomach at around 6 months of age. At a later stage, AID-/- mice develop a severe gastritis characterized by loss of gastric glands and epithelial hyperplasia. The disease development was not attenuated even under germ-free (GF) conditions. Gastric autoantigen -specific serum IgM was elevated in AID-/- mice, and the serum levels correlated with the gastritis pathological score. Adoptive transfer experiments suggest that autoimmune CD4+ T cells mediate gastritis development as terminal effector cells. These results suggest that abnormal B-cell expansion due to AID deficiency can drive B-cell autoimmunity, and in turn promote TLO formation, which ultimately leads to the propagation of organ-specific autoimmune effector CD4+ T cells. Thus, AID plays an important role in the containment of autoimmune diseases by negative regulation of autoreactive B cells.
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spelling doaj-art-1b044110e3f141c2b7bd9275be0eb3cf2025-08-20T03:46:19ZengPublic Library of Science (PLoS)PLoS ONE1932-62032008-08-0138e303310.1371/journal.pone.0003033Activation-induced cytidine deaminase deficiency causes organ-specific autoimmune disease.Koji HaseDaisuke TakahashiMasashi EbisawaSayaka KawanoKikuji ItohHiroshi OhnoActivation-induced cytidine deaminase (AID) expressed by germinal center B cells is a central regulator of somatic hypermutation (SHM) and class switch recombination (CSR). Humans with AID mutations develop not only the autosomal recessive form of hyper-IgM syndrome (HIGM2) associated with B cell hyperplasia, but also autoimmune disorders by unknown mechanisms. We report here that AID-/- mice spontaneously develop tertiary lymphoid organs (TLOs) in non-lymphoid tissues including the stomach at around 6 months of age. At a later stage, AID-/- mice develop a severe gastritis characterized by loss of gastric glands and epithelial hyperplasia. The disease development was not attenuated even under germ-free (GF) conditions. Gastric autoantigen -specific serum IgM was elevated in AID-/- mice, and the serum levels correlated with the gastritis pathological score. Adoptive transfer experiments suggest that autoimmune CD4+ T cells mediate gastritis development as terminal effector cells. These results suggest that abnormal B-cell expansion due to AID deficiency can drive B-cell autoimmunity, and in turn promote TLO formation, which ultimately leads to the propagation of organ-specific autoimmune effector CD4+ T cells. Thus, AID plays an important role in the containment of autoimmune diseases by negative regulation of autoreactive B cells.https://doi.org/10.1371/journal.pone.0003033
spellingShingle Koji Hase
Daisuke Takahashi
Masashi Ebisawa
Sayaka Kawano
Kikuji Itoh
Hiroshi Ohno
Activation-induced cytidine deaminase deficiency causes organ-specific autoimmune disease.
PLoS ONE
title Activation-induced cytidine deaminase deficiency causes organ-specific autoimmune disease.
title_full Activation-induced cytidine deaminase deficiency causes organ-specific autoimmune disease.
title_fullStr Activation-induced cytidine deaminase deficiency causes organ-specific autoimmune disease.
title_full_unstemmed Activation-induced cytidine deaminase deficiency causes organ-specific autoimmune disease.
title_short Activation-induced cytidine deaminase deficiency causes organ-specific autoimmune disease.
title_sort activation induced cytidine deaminase deficiency causes organ specific autoimmune disease
url https://doi.org/10.1371/journal.pone.0003033
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AT sayakakawano activationinducedcytidinedeaminasedeficiencycausesorganspecificautoimmunedisease
AT kikujiitoh activationinducedcytidinedeaminasedeficiencycausesorganspecificautoimmunedisease
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