Mapping interactions between complement C3 and regulators using mutations in atypical hemolytic uremic syndrome.

The molecular and structural bases for the association of complement C3 mutations with atypical hemolytic uremic syndrome

Atypical hemolytic uremic syndrome (aHUS) associates with complement dysregulation caused by mutations and polymorphisms in complement activators and regulators. However, the reasons why some mutations in complement proteins predispose to aHUS are poorly understood. Here, we have investigated the functional consequences of three aHUS-associated mutations in C3, R592W, R161W and I1157T. First, w...

Eculizumab for the treatment of an atypical hemolytic uremic syndrome with mutations in complement factor I and C3 Eculizumab para el tratamiento de un síndrome urémico hemolítico

Eculizumab for the treatment of an atypical hemolytic uremic syndrome with mutations in complement factor I and C3.

Delta beta thalassemia: a rare hemoglobin variant

Abbreviations: CBC, complete blood count; Hb, hemoglobin; HPLC, high-performance liquid chromatography. 2011;26:162-5. 7. Cho HY, Lee BS, Moon KC, Ha IS, Cheong HI, Choi Y. Complete factor H deficiency-associated atypical hemolytic uremic syndrome in a neonate. Pediatr Nephrol 2007;22:874-80. 8. Frémeaux-Bacchi V, Miller EC, Liszewski MK, et al. Mutations in complement C3 predispose to developm...

Hyperfunctional C3 convertase leads to complement deposition on endothelial cells and contributes to atypical hemolytic uremic syndrome.

Complement is a major innate immune defense against pathogens, tightly regulated to prevent host tissue damage. Atypical hemolytic uremic syndrome (aHUS) is characterized by endothelial damage leading to renal failure and is highly associated with abnormal alternative pathway regulation. We characterized the functional consequences of 2 aHUS-associated mutations (D(254)G and K(325)N) in factor ...