An ORAI1 mutation with mixed loss and gain of function properties causes combined immunodeficiency
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ABSTRACT: Loss of function mutations of ORAI1 suppress store-operated Ca2+ entry (SOCE) and cause an immunodeficiency disorder called Ca2+ release-activated Ca2+ (CRAC) channelopathy. An infant patient who is compound heterozygous for His134Pro and Leu194Pro mutations in the ORAI1 gene had strongly reduced SOCE in response to T cell receptor stimulation. He suffered from a severe form of combined immunodeficiency (CID) resulting in fatal chronic cytomegalovirus infection. Single cell transcriptomics revealed an overall strong activation of the patient's T cells but attenuated CD8+ effector memory T cell function.
ORGANISM(S): Homo sapiens
PROVIDER: GSE299029 | GEO | 2025/09/23
REPOSITORIES: GEO
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