Published January 1, 2015
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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
Creators
- 1. Massachusetts Gen Hosp, Dept Mol Biol, Boston, MA 02114 USA
- 2. Univ Calif Los Angeles, Dept Pediat, Div Immunol, Los Angeles, CA 90024 USA
- 3. Amer Univ Beirut, Div Pediat Infect Dis, Beirut, Lebanon
- 4. King Saud Univ, Coll Med, Dept Pediat, Riyadh 11461, Saudi Arabia
- 5. King Abdul Aziz Med City, Immunol & Allergy Pediat Dept, Jeddah, Saudi Arabia
Description
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.
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