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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.

Topics

Base Sequence
Exome
Fatal Outcome
Female
HEK293 Cells
Homozygote
Humans
Infant
Mutation
Neoplasm Proteins
ORAI1 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Protein Binding

Sequence Analysis, DNA

Sequence Deletion

Severe Combined Immunodeficiency

Stromal Interaction Molecule 1

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 31 Aug 2026.

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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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