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Article

A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function.

Nature - 11 May 2006

Feske Stefan, Gwack Yousang, Prakriya Murali, Srikanth Sonal, Puppel Sven-Holger, Tanasa Bogdan, Hogan Patrick G, Lewis Richard S, Daly Mark, Rao Anjana

Abstract excerpt

Antigen stimulation of immune cells triggers Ca2+ entry through Ca2+ release-activated Ca2+ (CRAC) channels, promoting the immune response to pathogens by activating the transcription factor NFAT. We have previously shown that cells from patients with one form of hereditary severe combined immune deficiency (SCID) syndrome are defective in store-operated Ca2+ entry and CRAC channel function. Here we identify the...

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Source

Identifiers

PMID: 16582901
DOI: 10.1038/nature04702

Genes

ORAI1

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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function.PMID 16582901Read ↗

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

Molecular identification of the CRAC channel by altered ion selectivity in a mutant of Orai.Semantic proximity Read ↗

The Orai1 Severe Combined Immune Deficiency Mutation and Calcium Release-activated Ca2+ Channel Function in the Heterozygous ConditionSemantic proximity Read ↗

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

Store-operated Ca2+ entry through ORAI1 is critical for T cell-mediated autoimmunity and allograft rejection.Semantic proximity Read ↗

The many faces of Orai1 dysfunction: Molecular mechanisms and clinical manifestations.Semantic proximity Read ↗

Biallelic mutations in calcium release activated channel regulator 2A (CRACR2A) cause a primary immunodeficiency disorder.Semantic proximity Read ↗

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

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

A Quartet of Native Orai Channel Isoforms Orchestrates Graded NFAT Activation and TranscriptionSemantic proximity Read ↗

Hair loss and defective T- and B-cell function in mice lacking ORAI1.Semantic proximity Read ↗

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