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

doi:10.1051/medsci/2011278016

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Article

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

Medecine sciences : M/S - 1 Jan 2000

Le Deist Françoise, Capiod Thierry

Abstract excerpt

Six years ago, STIM1 (stromal interaction molecule 1) was identified as an essential component of store-operated calcium channels and in less than one year teamed up with its first partner ORAI1 in immune cells to reconstitute CRAC (calcium-release activated current) channel function. Since then, STIM1 and ORAI1 have developed an ever increasing social network and to date are now linked to nine families of...

Topics

Amino Acid Sequence
Animals
Autoimmune Diseases
Calcium Channels
Calcium Signaling
Cell Adhesion Molecules
Disease Models, Animal
Glycosylation
Humans
Immunologic Deficiency Syndromes
Lymphoproliferative Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Membrane Proteins

Mice

Models, Biological

Models, Molecular

Molecular Sequence Data

Multiprotein Complexes

Muscular Diseases

Source

Open in PubMed

Identifiers

PMID: 21880262
DOI: 10.1051/medsci/2011278016

Genes

ORAI1
STIM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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[Immunodeficiencies and pathologies associated with mutations in STIM/ORAI, a membrane complex in the heart of calcium signalling].PMID 21880262Read ↗

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

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

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

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

The Ca2+ Sensor STIM in Human Diseases.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 ↗

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

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

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

STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror DiseasesSemantic proximity Read ↗

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