Ebun Omoyinmi Iman Mohamoud Kimberly Gilmour Paul A Brogan Despina Eleftheriou
10.3389/fimmu.2018.02524
Front Immunol
2018 Nov 1;9:2524.
autoinflammation complement component (c3, c4) cutaneous vasculitis digital ischaemia gain-of-function (gof) next-generating sequencing targeted gene capture
CC BY
https://pubmed.ncbi.nlm.nih.gov/30443255/
Complement C3 / genetics Gain of Function Mutation / genetics Ischemia / genetics Skin Diseases / genetics Vasculitis / genetics
Complement C3 / genetics Gain of Function Mutation / genetics Ischemia / genetics Skin Diseases / genetics Vasculitis / genetics Case Reports Research Support, Non-U.S. Gov't Child Complement C4 / genetics Female Heterozygote Humans Male Complement C3 Complement C4
PMC6221951
30443255
Cutaneous Vasculitis and Digital Ischaemia Caused by Heterozygous Gain-of-Function Mutation in C3
2018