Familial Cold Autoinflammatory Syndrome Type 1
نویسندگان
چکیده
منابع مشابه
Familial Mediterranean Fever and Human autoinflammatory diseases
Introduction Human Autoinflammatory Diseases (HADs) is a heterogeneous group of rare genetic diseases, which are characterized by unprovoked onsets of inflammation, fever and clinical symptoms analogous with rheumatic diseases with absence of immunological indicators. Familial Mediterranean Diseases (FMF) is one of the popular forms in the group of syndromes which are called HPFS. Clinical char...
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Familial cold autoinflammatory syndrome (FCAS) and the related autoinflammatory disorders, Muckle-Wells syndrome and neonatal onset multisystem inflammatory disease, are characterized by mutations in the CIAS1 gene that encodes cryopyrin, an adaptor protein involved in activation of IL-converting enzyme/caspase-1. Mutations in cryopyrin are hypothesized to result in abnormal secretion of caspas...
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ژورنال
عنوان ژورنال: Indian Journal of Pediatrics
سال: 2021
ISSN: ['0019-5456', '0973-7693']
DOI: https://doi.org/10.1007/s12098-021-03805-6