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

*Corresponding author for this work

Research output: Contribution to journalLetterpeer-review

7 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)100-102
Number of pages3
JournalClinical Immunology
Volume166-167
DOIs
Publication statusPublished - May 1 2016

Keywords

  • ORAI1
  • Severe combined immunodeficiency
  • Whole exome sequencing

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy

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