Novel pathogenic mutations identified in the first Chinese pedigree of complete C6 deficiency.

Objectives: Complete C6 deficiency (C6Q0) is a rare primary immunodeficiency leading to increased susceptibility to recurrent infections. Patients with C6Q0 have mostly been reported in individuals of African ancestry previously, but never in Chinese. We identify the first Chinese patients with C6Q0 through family screening of an index case presenting with recurrent meningitis with septicaemia and performed extensive clinical, serological and genetic investigations.