ArticleThe Journal of allergy and clinical immunology2009
ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia.
Article in The Journal of allergy and clinical immunology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 189 papers.
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Who cites it
189 citing papers in PubMed, 316 citations in OpenAlex.
- DHHC21 is a STIM1 protein S-acyltransferase that modulates immune function in vivo.Journal of cell science · 2026Article
- The Diagnostic Journey from Rhabdomyolysis to Myopathy with Tubular Aggregates: A Family-Based Case Report and Review of the Literature.Pediatric reports · 2026Article
- Subtle Clinical Clues for Early Diagnosis of Lethal ORAI1 Deficiency in Infants.Indian journal of pediatrics · 2026Article
- STIM/Orai-Mediated Store-Operated CaCells · 2026Review
- Mathematical Modeling of Calcium Dynamics in Ameloblasts.Calcified tissue international · 2026Article
- Remodeling of calcium signaling and store operated calcium entry as a consequence of human neural progenitor cell differentiation.Scientific reports · 2025Article
- Article
- DHHC21 is a STIM1 protein S-acyltransferase that modulates immune functionbioRxiv : the preprint server for biology · 2025Article
- Store-operated calcium entry-based targets for novel cancer therapeutic development.The Journal of pharmacology and experimental therapeutics · 2025Review
- Comparison of Phasic Store-Operated Calcium Entry in Rat Slow- and Fast-Twitch Muscle Fibers.Acta physiologica (Oxford, England) · 2025Article
- A novel variant in the STIM1 gene leading to combined immunodeficiency and congenital myopathy.Immunologic research · 2025Article
- Genomic profiling at a single center cracks the code in inborn errors of immunity.Internal and emergency medicine · 2025Article
- Ca2+ tunneling architecture and function are important for secretion.The Journal of cell biology · 2025Article
- Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.The Journal of experimental medicine · 2025Article
- Effects of aging on calcium channels in skeletal muscle.Frontiers in molecular biosciences · 2025Review
- Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy.Global medical genetics · 2024Article
- TAM-associated CASQ1 mutants diminish intracellular CaJournal of muscle research and cell motility · 2024Article
- Impacts of pancreatic exocrine insufficiency on gut microbiota.Journal of Zhejiang University. Science. B · 2024Article
- ORAI CaBiomolecules · 2024Review
- Specific Inhibition of Orai1-mediated Calcium Signalling Resolves Inflammation and Clears Bacteria in an Acute Respiratory Distress Syndrome Model.American journal of respiratory and critical care medicine · 2024Article
129 more citing papers are in PubMed but not listed here.
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Authors and funding
18 authors at 7 institutions in 4 countries.
Funding
Abstract
backgroundDefects in the development or activation of T cells result in immunodeficiency associated with severe infections early in life. T-cell activation requires Ca2+ influx through Ca2+-release activated Ca2+ (CRAC) channels encoded by the gene ORAI1.
objectiveInvestigation of the genetic causes and the clinical phenotype of immunodeficiency in patients with impaired Ca2+ influx and CRAC channel function.
methodsDNA sequence analysis for mutations in the genes ORAI1, ORAI2, ORAI3, and stromal interaction molecule (STIM) 1 and 2, as well as mRNA and protein expression analysis of ORAI1 in immunodeficient patients. Immunohistochemical analysis of ORAI1 tissue distribution in healthy human donors.
resultsWe identified mutations in ORAI1 in patients from 2 unrelated families. One patient is homozygous for a frameshift nonsense mutation in ORAI1 (ORAI1-A88SfsX25), and a second patient is compound heterozygous for 2 missense mutations in ORAI1 (ORAI1-A103E/L194P). All 3 mutations abolish ORAI1 expression and impair Ca2+ influx and CRAC channel function. The clinical syndrome associated with ORAI1 deficiency is characterized by immunodeficiency with a defect in the function but not in the development of lymphocytes, congenital myopathy, and anhydrotic ectodermal dysplasia with a defect in dental enamel calcification. In contrast with the limited clinical phenotype, we found ORAI1 protein expression in a wide variety of cell types and organs.
conclusionCa2+ influx through ORAI1 is crucial for lymphocyte function in vivo. Despite almost ubiquitous ORAI1 expression, the channel has a nonredundant role in only a few cell types judging from the limited clinical phenotype in ORAI1-deficient patients.
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