STIM1Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity
| Autor: | Stefan Feske, Claire Hivroz, Gideon Rechavi, Anjana Rao, Capucine Picard, Alexander Papolos, Francoise LeDeist, Frédéric Rieux-Laucat, Kevin Lüthy, Alain Fischer, Christie Ann McCarl, Sara Khalil |
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| Rok vydání: | 2009 |
| Předmět: |
Male
inorganic chemicals medicine.medical_specialty Nonsense mutation Hepatosplenomegaly Article Autoimmune Diseases Fatal Outcome Internal medicine medicine Humans RNA Messenger Stromal Interaction Molecule 1 Child Immunodeficiency Purpura Thrombocytopenic Idiopathic Voltage-dependent calcium channel business.industry ORAI1 Siblings Endoplasmic reticulum Immunologic Deficiency Syndromes Infant Membrane Proteins STIM1 Sequence Analysis DNA Syndrome General Medicine medicine.disease Neoplasm Proteins Pedigree Endocrinology Codon Nonsense Calcium Female Anemia Hemolytic Autoimmune Calcium Channels medicine.symptom Autoimmune hemolytic anemia business |
| Zdroj: | New England Journal of Medicine. 360:1971-1980 |
| ISSN: | 1533-4406 0028-4793 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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