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Yayınlanmış 1 Ocak 2015 | Sürüm v1
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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

Oluşturanlar

  • 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

Açıklama

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.

Dosyalar

bib-0e1689a4-d247-46c6-8b91-9598b975df8d.txt

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