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

[摘要] 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. Moreover, there has been recent evidence of NLRC4-inflammasomopathies. Although there have been cases of FCAS secondary to missense mutations in NLRC4, we report the first symptomatic case associated with a 93-base-pair in-frame deletion within Exon 5 of the leucine rich repeat domain.

[发布日期] 2020-05-01

[关键词] NLRC4;familial cold inflammatory syndrome;familial cold urticaria;autoinflammatory disorder;gene deletion