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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

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.

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 a (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.