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