STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity.
case_series · Level IV
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- Record sourced from PubMed, PMID 19420366.
- Also identified by DOI 10.1056/NEJMoa0900082 and PMC identifier 2851618.
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Abstract
A mutation in ORAI1, the gene encoding the pore-forming subunit of the Ca(2+)-release-activated Ca(2+) (CRAC) channel, abrogates the store-operated entry of Ca(2+) into cells and impairs lymphocyte activation. Stromal interaction molecule 1 (STIM1) in the endoplasmic reticulum activates ORAI1-CRAC channels. We report on three siblings from one kindred with a clinical syndrome of immunodeficiency, hepatosplenomegaly, autoimmune hemolytic anemia, thrombocytopenia, muscular hypotonia, and defective enamel dentition. Two of these patients have a homozygous nonsense mutation in STIM1 that abrogates expression of STIM1 and Ca(2+) influx.
Medical subject headings
- Anemia, Hemolytic, Autoimmune
- Codon, Nonsense
- Immunologic Deficiency Syndromes
- Membrane Proteins
- Neoplasm Proteins
- Purpura, Thrombocytopenic, Idiopathic