Identification of a variant in NLRP3 gene in a patient with Muckle-Wells syndrome: a case report and...
Identification of a variant in NLRP3 gene in a patient with Muckle-Wells syndrome: a case report and review of literature
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Author / Creator
Liu, Jia , Zhang, Ranran , Yi, Zhi , Lin, Yi , Chang, Hong and Zhang, Qiuye
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
Cryopyrin-associated periodic syndrome (CAPS), a rare genetic autoimmune disease, is composed of familial cold autoinflammatory syndrome (FCAs), Muckle-Wells syndrome (MWS), and neonatal onset multisystem inflammatory disease (NOMID). MWS is caused by dominantly inherited or de novo gain-of-function mutations in the NOD-like receptor 3 (NLRP3) gene...
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Full title
Identification of a variant in NLRP3 gene in a patient with Muckle-Wells syndrome: a case report and review of literature
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TN_cdi_doaj_primary_oai_doaj_org_article_67aa0da7ed454bcb931d6e9050f4e207
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_67aa0da7ed454bcb931d6e9050f4e207
Other Identifiers
ISSN
1546-0096
E-ISSN
1546-0096
DOI
10.1186/s12969-023-00795-x
