Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1

Yousef R. Badran, Michel J. Massaad, Wayne Bainter, Brittney Cangemi, Shafiq Ur Rehman Naseem, Hashim Javad, Salem Al-Tamemi, Raif S. Geha*, Janet Chou

*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلةمراجعة النظراء

12 اقتباسات (Scopus)

ملخص

ORAI1 is the pore-forming subunit of the calcium release-activated calcium channel responsible for calcium influx into cells triggered by endoplasmic reticulum store depletion. We report here a patient with severe combined immunodeficiency and absent store-operated calcium entry due to a novel mutation in ORAI1 that results in the expression of a C-terminally truncated protein that abolishes ORAI1 binding to STIM1.

اللغة الأصليةEnglish
الصفحات (من إلى)100-102
عدد الصفحات3
دوريةClinical Immunology
مستوى الصوت166-167
المعرِّفات الرقمية للأشياء
حالة النشرPublished - مايو 1 2016

ASJC Scopus subject areas

  • ???subjectarea.asjc.2400.2403???
  • ???subjectarea.asjc.2700.2723???

بصمة

أدرس بدقة موضوعات البحث “Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1'. فهما يشكلان معًا بصمة فريدة.

قم بذكر هذا