Recurrent Pyogenic Infections Caused by a Movel Gln1420* Mutation in the C3 Gene

Coelho, PS; Gouveia, C; Pinto, MV; Neves, C; Cordeiro, AI; Neves, JF

http://hdl.handle.net/10400.17/4334

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Abstract(s)

C3 is a crucial protein of the complement system. Congenital C3 deficiency is extremely rare and manifests through recurrent, severe infections and should always be considered as a differential diagnosis of recurrent pyogenic infections. We report a case of a patient with a novel C3 gene mutation, responsible for complete C3 deficiency with impaired complement system activation and recurrent infections.