cfi antikoerper, MGC53615 antikoerper, Cfi antikoerper, factor I antikoerper, IF antikoerper, gb:ai721528 antikoerper, ahus3 antikoerper, c3b-ina antikoerper, c3bc4bi antikoerper, c3bina antikoerper, kaf antikoerper, CFI antikoerper, AHUS3 antikoerper, C3BINA antikoerper, C3b-INA antikoerper, FI antikoerper, KAF antikoerper, complement factor I S homeolog antikoerper, complement factor I L homeolog antikoerper, complement factor I antikoerper, complement component factor i antikoerper, cfi.S antikoerper, cfi.L antikoerper, CFI antikoerper, cfi antikoerper, Cfi antikoerper
Hintergrund
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