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Article

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

Clinical immunology (Orlando, Fla.) - 1 May 2016

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

Abstract excerpt

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.

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Source

Identifiers

PMID: 27063589
DOI: 10.1016/j.clim.2016.03.012

Genes

ORAI1
STIM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1.PMID 27063589Read ↗

Immunodeficiency due to mutations in ORAI1 and STIM1.Semantic proximity Read ↗

<i>STIM1</i> Mutation Associated with a Syndrome of Immunodeficiency and AutoimmunitySemantic proximity Read ↗

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiencySemantic proximity Read ↗

Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency.Semantic proximity Read ↗

[Immunodeficiencies and pathologies associated with mutations in STIM/ORAI, a membrane complex in the heart of calcium signalling].Semantic proximity Read ↗

Immunodeficiency due to defects in store-operated calcium entry.Semantic proximity Read ↗

Diseases caused by mutations in ORAI1 and STIM1.Semantic proximity Read ↗

A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases.Semantic proximity Read ↗

Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutation.Semantic proximity Read ↗

Differential roles of the C and N termini of Orai1 protein in interacting with stromal interaction molecule 1 (STIM1) for Ca2+ release-activated Ca2+ (CRAC) channel activation.Semantic proximity Read ↗

ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency.Semantic proximity Read ↗

A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency.Semantic proximity Read ↗

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