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Article

Immunodeficiency due to defects in store-operated calcium entry.

Annals of the New York Academy of Sciences - 1 Nov 2011

Feske Stefan

Abstract excerpt

Mutations in genes encoding the calcium-release activated calcium (CRAC) channel abolish calcium influx in cells of the immune system and cause severe congenital immunodeficiency. Patients with autosomal recessive mutations in the CRAC channel gene ORAI1, its activator stromal interaction molecule 1 (STIM1), and mice with targeted deletion of Orai1, Stim1, and Stim2 genes reveal important roles for CRAC channels...

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Source

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Identifiers

PMID: 22129055
DOI: 10.1111/j.1749-6632.2011.06240.x
PMCID: PMC3774594

Genes

ORAI1
STIM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Immunodeficiency due to defects in store-operated calcium entry.PMID 22129055Read ↗

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

Regulation of lymphocyte function by ORAI and STIM proteins in infection and autoimmunity.Semantic proximity Read ↗

Physiological and pathophysiological functions of SOCE in the immune system.Semantic proximity Read ↗

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

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

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

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

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

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

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

Orai1 is an essential pore subunit of the CRAC channel.Semantic proximity Read ↗

Orais and STIMs: physiological mechanisms and disease.Semantic proximity Read ↗

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