Article

Mutation of an L-Type Calcium Channel Gene Leads to a Novel Human Primary Cellular Immunodeficiency

2019-12-04

Abstract excerpt

Human primary immunodeficiencies are inherited diseases that can provide valuable insight into the immune system. Calcium (Ca 2+ ) is a vital secondary messenger in T lymphocytes regulating a vast array of important events including maturation, homeostasis, activation, and apoptosis and can enter the cell through CRAC, TRP, and Cav channels. Here we describe three Cav1.4-deficient siblings presenting with X-linke...

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Literature Corpus work: 8b3dbc94-3ce8-5436-a168-50e738098a73
DOI: 10.1101/864280

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