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

Research output: Contribution to journalLetter

6 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

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Keywords

  • ORAI1
  • Severe combined immunodeficiency
  • Whole exome sequencing

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy

Cite this

Badran, Y. R., Massaad, M. J., Bainter, W., Cangemi, B., Naseem, S. U. R., Javad, H., ... Chou, J. (2016). Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1. Clinical Immunology, 166-167, 100-102. https://doi.org/10.1016/j.clim.2016.03.012