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Article

Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutation.

Clinical immunology (Orlando, Fla.) - 1 Aug 2024

Alary Benedicte, Cintas Pascal, Claude Corentin, Dellis Olivier, Thèze Corinne, Van Goethem Charles, Cossée Mireille, Krahn Martin, Delague Valérie, Bartoli Marc

Abstract excerpt

Store-operated calcium entry (SOCE) plays a crucial role in maintaining cellular calcium homeostasis. This mechanism involves proteins, such as stromal interaction molecule 1 (STIM1) and ORAI1. Mutations in the genes encoding these proteins, especially STIM1, can lead to various diseases, including CRAC channelopathies associated with severe combined immunodeficiency. Herein, we describe a novel homozygous...

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Identifiers

PMID: 38977117
DOI: 10.1016/j.clim.2024.110306

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutation.PMID 38977117Read ↗

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