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

Cell Calcium. 2022 May:103:102552. doi: 10.1016/j.ceca.2022.102552. Epub 2022 Feb 7.

Author

Raz Palty¹

Affiliation

¹ Department of Biochemistry, Technion Integrated Cancer Center, Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 31096 Israel. Electronic address: razpalty@technion.ac.il.

PMID: 35151051
DOI: 10.1016/j.ceca.2022.102552

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Calcium Channels / metabolism
Calcium Release Activated Calcium Channels* / metabolism
Calcium Signaling
Calcium* / metabolism
Calcium-Binding Proteins
Humans
Membrane Proteins / metabolism
ORAI1 Protein
Stromal Interaction Molecule 1 / genetics

Substances

CRACR2A protein, human
Calcium Channels
Calcium Release Activated Calcium Channels
Calcium-Binding Proteins
Membrane Proteins
ORAI1 Protein
Stromal Interaction Molecule 1
Calcium