ReviewClinical immunology (Orlando, Fla.)2010
Immunodeficiency due to mutations in ORAI1 and STIM1.
Review in Clinical immunology (Orlando, Fla.), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 104 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
104 citing papers in PubMed, 176 citations in OpenAlex.
- DHHC21 is a STIM1 protein S-acyltransferase that modulates immune function in vivo.Journal of cell science · 2026Article
- A Quartet of Native Orai Channel Isoforms Orchestrates Graded NFAT Activation and Transcription.bioRxiv : the preprint server for biology · 2026Article
- STIM-Orai signaling in neurons: integrating calcium dynamics and synaptic plasticity.Cell communication and signaling : CCS · 2026Review
- Subtle Clinical Clues for Early Diagnosis of Lethal ORAI1 Deficiency in Infants.Indian journal of pediatrics · 2026Article
- CRAC channels as targets for immunotherapy.Current opinion in immunology · 2026Review
- STIM1 GoF Mutants: Genotype-Phenotype Relationships Across the Stormorken/TAM/YPS Spectrum.Cells · 2026Review
- Deletion of STIM1 in Treg cells protects against lung fibrosis and associated cardiovascular complications in a pre-clinical mouse model.Redox biology · 2026Article
- Single-cell transcriptomics reveals targeted modulation of inflammatory repertoire by SOCE blockers.Human immunology · 2026Article
- STIM1 as an Early Predictive Biomarker for Acute Respiratory Distress Syndrome (ARDS) and Its Potential Mechanisms.Human mutation · 2026Article
- Article
- DHHC21 is a STIM1 protein S-acyltransferase that modulates immune functionbioRxiv : the preprint server for biology · 2025Article
- A novel variant in the STIM1 gene leading to combined immunodeficiency and congenital myopathy.Immunologic research · 2025Article
- Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.The Journal of experimental medicine · 2025Article
- ORAI CaBiomolecules · 2024Review
- Anti-Inflammatory Effects of Alphitolic Acid Isolated fromInternational journal of molecular sciences · 2023Article
- Too much of a good thing: The case of SOCE in cellular apoptosis.Cell calcium · 2023Review
- Infections in Inborn Errors of Immunity with Combined Immune Deficiency: A Review.Pathogens (Basel, Switzerland) · 2023Review
- Deciphering the functions of Stromal Interaction Molecule-1 in amelogenesis using AmelX-iCre mice.Frontiers in physiology · 2023Article
- Genome-wide detection of copy number variation in American mink using whole-genome sequencing.BMC genomics · 2022Article
- Orai1: A New Therapeutic Target for the Acute Kidney Injury-to-Chronic Kidney Disease Transition.Nephron · 2022Review
44 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 2 countries.
Funding
Abstract
Lymphocyte activation requires Ca(2+) influx through specialized Ca(2+) channels in the plasma membrane. In T cells the predominant Ca(2+) channel is the Ca(2+) release activated Ca(2+) (CRAC) channel encoded by the gene ORAI1. ORAI1 is activated by stromal interaction molecule (STIM) 1 that is localized in the ER where it senses the concentration of stored Ca(2+). Following antigen binding to immunoreceptors such as the TCR, ER Ca(2+) stores are depleted, STIM1 is activated and ORAI1-CRAC channels open resulting in what is referred to as store-operated Ca(2+) entry (SOCE). Mutations in ORAI1 and STIM1 genes in human patients that lead to expression of non-functional ORAI1 or complete lack of ORAI1 or STIM1 protein are associated with a unique clinical phenotype that is characterized by immunodeficiency, muscular hypotonia and anhydrotic ectodermal dysplasia, as well as, in the case of STIM1 deficiency, autoimmunity and lymphoproliferative disease. The immunodeficiency in these patients is due to a severe defect in T cell activation but not in lymphocyte development. This review describes the immunological and non-immunological phenotypes of patients with defects in SOCE and CRAC channel function and discusses them in the context of similar immunodeficiency diseases and animal models of ORAI1 and STIM1 function.
Indexed as
Identifiers
What OpenQuestion holds
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.