cfi antibody, MGC53615 antibody, Cfi antibody, factor I antibody, IF antibody, gb:ai721528 antibody, ahus3 antibody, c3b-ina antibody, c3bc4bi antibody, c3bina antibody, kaf antibody, CFI antibody, AHUS3 antibody, C3BINA antibody, C3b-INA antibody, FI antibody, KAF antibody, complement factor I S homeolog antibody, complement factor I L homeolog antibody, complement factor I antibody, complement component factor i antibody, cfi.S antibody, cfi.L antibody, CFI antibody, cfi antibody, Cfi antibody
Background
Defects in CFI are a cause of susceptibility to hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]. An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. Note=Susceptibility to the development of atypical hemolytic uremic syndrome can be conferred by mutations in various components of or regulatory factors in the complement cascade system. Other genes may play a role in modifying the phenotype. Defects in CFI are the cause of complement factor I deficiency (CFI deficiency) [MIM:610984]. CFI deficiency is an autosomal recessive condition associated with a propensity to pyogenic infections.Synonyms: AHUS3, C3B/C4B inactivator, C3BINA, C3b-INA, CFI, IF, KAF