Novel Gene Deletion in NLRC4 Expanding the Familial Cold Inflammatory Syndrome Phenotype

Familial cold inflammatory syndrome (FCAS) is a rare, inherited inflammatory disease characterized by episodes of fever, rash, and arthralgias after exposure to cold stimuli. Previous literature has established FCAS linked to autosomal dominant mutations in the NLRP3 (CIAS1) and NLRP12 genes. Moreov...

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Detalles Bibliográficos
Autores principales: Jeskey, Jack, Parida, Akash, Graven, Kelsey, Hostoffer, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268108/
https://www.ncbi.nlm.nih.gov/pubmed/32537258
http://dx.doi.org/10.1177/2152656720928062

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268108/
https://www.ncbi.nlm.nih.gov/pubmed/32537258
http://dx.doi.org/10.1177/2152656720928062

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