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Article

Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency.

Journal of clinical immunology - 1 Jul 2021

Yu Fang, Agrebi Nourhen, Mackeh Rafah, Abouhazima Khaled, KhudaBakhsh Khadija, Adeli Mehdi, Lo Bernice, Hassan Amel, Machaca Khaled

Abstract excerpt

Store-operated Ca2+ entry (SOCE) represents a predominant Ca2+ influx pathway in non-excitable cells. SOCE is required for immune cell activation and is mediated by the plasma membrane (PM) channel ORAI1 and the endoplasmic reticulum (ER) Ca2+ sensor STIM1. Mutations in the Orai1 or STIM1 genes abolish SOCE leading to combined immunodeficiency (CID), muscular hypotonia, and anhidrotic ectodermal dysplasia. Here,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33650027
DOI: 10.1007/s10875-021-01004-8
PMCID: PMC8249264

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Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency.PMID 33650027Read ↗

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