Condition: Complement Factor I (C3 inactivator) deficiency
rs121964912 in
CFI gene and
Complement Factor I (C3 inactivator) deficiency
PMID 12562389 2003 Molecular characterization of homozygous hereditary factor I deficiency.
PMID 17018561 2007 Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome.
PMID 8613545 1996 The molecular basis of hereditary complement factor I deficiency.
PMID 25988862 2015 Novel CFI mutation in a patient with leukocytoclastic vasculitis may redefine the clinical spectrum of Complement Factor I deficiency.