Article
Complement factor H, FHR-3 and FHR-1 variants associate in an extended haplotype conferring increased risk of atypical hemolytic uremic syndrome.
Molecular immunology - 1 Oct 2015
Bernabéu-Herrero Maria E, Jiménez-Alcázar Miguel, Anter Jaouad, Pinto Sheila, Sánchez Chinchilla Daniel, Garrido Sofía, López-Trascasa Margarita, Rodríguez de Córdoba Santiago, Sánchez-Corral Pilar
Abstract excerpt
Atypical hemolytic uremic syndrome (aHUS) is a severe thrombotic microangiopathy affecting the renal microvasculature and is associated with complement dysregulation caused by mutations or autoantibodies. Disease penetrance and severity is modulated by inheritance of "risk" polymorphisms in the complement genes MCP, CFH and CFHR1. We describe the prevalence of mutations, the frequency of risk polymorphisms and...
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