Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome.

doi:10.1016/j.jaci.2016.09.038

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Article

Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome.

The Journal of allergy and clinical immunology - 1 Jun 2017

Takagi Masatoshi, Ogata Shohei, Ueno Hiroo, Yoshida Kenichi, Yeh Tzuwen, Hoshino Akihiro, Piao Jinhua, Yamashita Motoy, Nanya Mai, Okano Tsubasa, Kajiwara Michiko, Kanegane Hirokazu, Muramatsu Hideki, Okuno Yusuke, Shiraishi Yuichi, Chiba Kenichi, Tanaka Hiroko, Bando Yuki, Kato Motohiro, Hayashi Yasuhide, Miyano Satoru, Imai Kohsuke, Ogawa Seishi, Kojima Seiji, Morio Tomohiro

Abstract excerpt

BACKGROUND: Autoimmune diseases in children are rare and can be difficult to diagnose. Autoimmune lymphoproliferative syndrome (ALPS) is a well-characterized pediatric autoimmune disease caused by mutations in genes associated with the FAS-dependent apoptosis pathway. In addition, various genetic alterations are associated with the ALPS-like phenotype. OBJECTIVE: The aim of the present study was to elucidate the...

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Identifiers

PMID: 27845235
DOI: 10.1016/j.jaci.2016.09.038

Genes

TNFAIP3
FAS
TNF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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