ArticleThe Journal of allergy and clinical immunology2018
ORAI1 mutations abolishing store-operated Ca
Article in The Journal of allergy and clinical immunology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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Who cites it
53 citing papers in PubMed, 92 citations in OpenAlex.
- Mechanistic insights into Orai dynamics during pore opening.Channels (Austin, Tex.) · 2026Review
- 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
- Mathematical Modeling of Calcium Dynamics in Ameloblasts.Calcified tissue international · 2026Article
- Orai1 acts as a novel CaExperimental & molecular medicine · 2026Article
- A rare ORAI1 missense variant associates with risk of vascular diseases in White British adults.PloS one · 2026Article
- Article
- Genomic profiling at a single center cracks the code in inborn errors of immunity.Internal and emergency medicine · 2025Article
- Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.The Journal of experimental medicine · 2025Article
- Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy.Global medical genetics · 2024Article
- An Orai1 gain-of-function tubular aggregate myopathy mouse model phenocopies key features of the human disease.The EMBO journal · 2024Article
- Water in peripheral TM-interfaces of Orai1-channels triggers pore opening.Communications biology · 2024Article
- ORAI CaBiomolecules · 2024Review
- Synthetic Biology Meets CaCells · 2024Review
- Multifaceted control of T cell differentiation by STIM1.Trends in biochemical sciences · 2023Review
- Too much of a good thing: The case of SOCE in cellular apoptosis.Cell calcium · 2023Review
- Article
- Disrupted CaCellular & molecular immunology · 2023Article
- Deciphering the functions of Stromal Interaction Molecule-1 in amelogenesis using AmelX-iCre mice.Frontiers in physiology · 2023Article
- Distinct roles of ORAI1 in T cell-mediated allergic airway inflammation and immunity to influenza A virus infection.Science advances · 2022Article
Corrections and comments
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Authors and funding
19 authors at 11 institutions in 6 countries.
Funding
Abstract
backgroundStore-operated Ca
objectiveWe performed molecular and immunologic analysis of patients with CID, anhidrosis, and ectodermal dysplasia of unknown etiology.
methodsWe performed DNA sequencing of the ORAI1 gene, modeling of mutations on ORAI1 crystal structure, analysis of ORAI1 mRNA and protein expression, SOCE measurements, immunologic analysis of peripheral blood lymphocyte populations by using flow cytometry, and histologic and ultrastructural analysis of patient tissues.
resultsWe identified 3 novel autosomal recessive mutations in ORAI1 in unrelated kindreds with CID, autoimmunity, ectodermal dysplasia with anhidrosis, and muscular dysplasia. The patients were homozygous for p.V181SfsX8, p.L194P, and p.G98R mutations in the ORAI1 gene that suppressed ORAI1 protein expression and SOCE in the patients' lymphocytes and fibroblasts. In addition to impaired T-cell cytokine production, ORAI1 mutations were associated with strongly reduced numbers of invariant natural killer T and regulatory T (Treg) cells and altered composition of γδ T-cell and natural killer cell subsets.
conclusionORAI1 null mutations are associated with reduced numbers of invariant natural killer T and Treg cells that likely contribute to the patients' immunodeficiency and autoimmunity. ORAI1-deficient patients have dental enamel defects and anhidrosis, representing a new form of anhidrotic ectodermal dysplasia with immunodeficiency that is distinct from previously reported patients with anhidrotic ectodermal dysplasia with immunodeficiency caused by mutations in the nuclear factor κB signaling pathway (IKBKG and NFKBIA).
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.