CRACR2A associated immunodeficiency – the supporting factor takes center stage

Raz Palty

doi:10.1016/j.ceca.2022.102552

CRACR2A associated immunodeficiency – the supporting factor takes center stage

Raz Palty

Research output: Contribution to journal › Comment/debate

1 Scopus citations

Abstract

Loss of function mutations in one of the core components of the calcium release-activated calcium (CRAC) channel complex, STIM1 and ORAI1, lead to severe immunodeficiency. Whether changes in regulatory components of the CRAC channel may also contribute to a disease state remained unknown. In a recent study, Wu et al. report a case of late onset immunodeficiency in a patient with bi-allelic mutation in CRACR2A, a regulatory component of the CRAC channel.

Original language	English
Article number	102552
Journal	Cell Calcium
Volume	103
DOIs	https://doi.org/10.1016/j.ceca.2022.102552
State	Published - 1 May 2022
Externally published	Yes

Keywords

CRAC channel
CRACR2A
Immunodeficiency
Orai1
STIM1

ASJC Scopus subject areas

Physiology
Molecular Biology
Cell Biology

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10.1016/j.ceca.2022.102552

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title = "CRACR2A associated immunodeficiency – the supporting factor takes center stage",

abstract = "Loss of function mutations in one of the core components of the calcium release-activated calcium (CRAC) channel complex, STIM1 and ORAI1, lead to severe immunodeficiency. Whether changes in regulatory components of the CRAC channel may also contribute to a disease state remained unknown. In a recent study, Wu et al. report a case of late onset immunodeficiency in a patient with bi-allelic mutation in CRACR2A, a regulatory component of the CRAC channel.",

keywords = "CRAC channel, CRACR2A, Immunodeficiency, Orai1, STIM1",

author = "Raz Palty",

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AB - Loss of function mutations in one of the core components of the calcium release-activated calcium (CRAC) channel complex, STIM1 and ORAI1, lead to severe immunodeficiency. Whether changes in regulatory components of the CRAC channel may also contribute to a disease state remained unknown. In a recent study, Wu et al. report a case of late onset immunodeficiency in a patient with bi-allelic mutation in CRACR2A, a regulatory component of the CRAC channel.

KW - CRAC channel

KW - CRACR2A

KW - Immunodeficiency

KW - Orai1

KW - STIM1

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M3 - Comment/debate

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SN - 0143-4160

VL - 103

JO - Cell Calcium

JF - Cell Calcium

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ER -

CRACR2A associated immunodeficiency – the supporting factor takes center stage

Abstract

Keywords

ASJC Scopus subject areas

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