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Elsevier, Journal of Allergy and Clinical Immunology, 1(135), p. 217-227.e9, 2015

DOI: 10.1016/j.jaci.2014.10.019

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

Journal article published in 2015 by Louis-Marie Charbonnier ORCID, Erin Janssen ORCID, PhD Erin Janssen Md, Janet Chou, Janet Chou Md, Toshiro K. Ohsumi PhD, Sevgi Keles, Sevgi Keles Md, Joyce T. Hsu, Joyce T. Hsu Md, Michel J. Massaad PhD ORCID, Maria Garcia Lloret Md, Maria Garcia-Lloret, Rima Hanna Wakim Md, Rima Hanna-Wakim and other authors.
This paper is available in a repository.
This paper is available in a repository.

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Abstract

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 transcription 5b (STAT5b), and signal transducer and activator of transcription 1 (STAT1). However, the genetic defects underlying many cases of IPEX-like disorders remain unknown.