Cutaneous Vasculitis and Recurrent Infection Caused by Deficiency in Complement Factor I.

ABSTRACT: Cutaneous leukocytoclastic vasculitis arises from immune complex deposition and dysregulated complement activation in small blood vessels. There are many causes, including dysregulated host response to infection, drug reactions, and various autoimmune conditions. It is increasingly recognised that some monogenic autoinflammatory diseases cause vasculitis, although genetic causes of vasculitis are extremely rare. We describe a child of consanguineous parents who presented with chronic cutaneous leukocytoclastic vasculitis, recurrent upper respiratory tract infection, and hypocomplementaemia. A homozygous p.His380Arg mutation in the complement factor I (CFI) gene CFI was identified as the cause, resulting in complete absence of alternative complement pathway activity, decreased classi

SUBMITTER: Nanthapisal S 

PROVIDER: S-EPMC5904195 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature