Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA.

doi:10.1016/j.jaci.2014.10.019

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Article

Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA.

The Journal of allergy and clinical immunology - 1 Jan 2015

Charbonnier Louis-Marie, Janssen Erin, Chou Janet, Ohsumi Toshiro K, Keles Sevgi, Hsu Joyce T, Massaad Michel J, Garcia-Lloret Maria, Hanna-Wakim Rima, Dbaibo Ghassan, Alangari Abdullah A, Alsultan Abdulrahman, Al-Zahrani Daifulah, Geha Raif S, Chatila Talal A

Abstract excerpt

BACKGROUND: A number of heritable immune dysregulatory diseases result from defects affecting regulatory T (Treg) cell development, function, or both. They include immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, which is caused by mutations in forkhead box P3 (FOXP3), and IPEX-like disorders caused by mutations in IL-2 receptor α (IL2RA), signal transducer and activator of...

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Identifiers

PMID: 25468195
DOI: 10.1016/j.jaci.2014.10.019
PMCID: PMC4289093

Genes

LRBA
FOXP3
STAT1

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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