Jeopardy to life and limb-using immunogenotyping to characterize inflammatory phenotypes: a case report.

Abstract

Dear Editor, NFκB is an inducible transcription factor with a critical role in immune cell survival and differentiation. The NFκB pathway consists of the canonical and non-canonical pathways, the former regulating proinflammatory genes and the latter involving TNF receptor superfamily members and contributing to immune cell development and homeostasis amongst other functions. We describe the case of a 59-year-old male with progressive post operative necrotising fasciitis in whom genomic analysis revealed a heterozygous truncating mutation in the NFKB1 gene. The uniqueness of our case includes its rarity but also the significant collateral damage that can occur when inflammatory cascades escape homeostatic control due to defects in the pathway which regulates un-opposed inflammation