No abstract

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.

RATIONALE: The best treatment for common variable immunodeficiency (CVID) patients with granulomatous disease remains elusive. METHODS: We describe the follow up of a CVID patient with infliximab responsive granulomatous disease. RESULTS: We have previously described a now 72 year old white woman diagnosed as CVID at the age of 41. Serum IgG was 112 mg%, IgA 7 mg% and IgM 31 mg%. She was placed on monthly IVIG with good infectious