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Article

A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer.

Journal of clinical immunology - 1 Jan 2016

Hayakawa Seiichi, Okada Satoshi, Tsumura Miyuki, Sakata Sonoko, Ueno Yoshitaka, Imai Kohsuke, Morio Tomohiro, Ohara Osamu, Chayama Kazuaki, Kobayashi Masao

Abstract excerpt

Cytotoxic T-lymphocyte-antigen 4 (CTLA-4) is an essential negative regulator expressed on regulatory T cells (Tregs) and activated T cells. Germline heterozygous mutations in CTLA4 lead to haploinsufficiency of CTLA-4, resulting in the development of an autosomal dominant immune dysregulation syndrome with incomplete penetrance. We report here a Japanese patient with this disorder who has a novel heterozygous...

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Source

Identifiers

PMID: 26644313
DOI: 10.1007/s10875-015-0221-x

Genes

CTLA4
FOXP3

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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