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Article

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

eLife - 15 Dec 2021

Wu Beibei, Rice Laura, Shrimpton Jennifer, Lawless Dylan, Walker Kieran, Carter Clive, McKeown Lynn, Anwar Rashida, Doody Gina M, Srikanth Sonal, Gwack Yousang, Savic Sinisa

Abstract excerpt

CRAC channel regulator 2 A (CRACR2A) is a large Rab GTPase that is expressed abundantly in T cells and acts as a signal transmitter between T cell receptor stimulation and activation of the Ca2+-NFAT and JNK-AP1 pathways. CRACR2A has been linked to human diseases in numerous genome-wide association studies, however, to date no patient with damaging variants in CRACR2A has been identified. In this study, we...

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Identifiers

PMID: 34908525
DOI: 10.7554/eLife.72559
PMCID: PMC8673834

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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.

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