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Novel pathogenic mutations identified in the first Chinese pedigree of complete C6 deficiency.
Clinical & Translational Immunology ( IF 4.6 ) Pub Date : 2020-07-08 , DOI: 10.1002/cti2.1148 Philip H Li 1 , William Wy Wong 2 , Evelyn Ny Leung 2 , Chak-Sing Lau 1 , Elaine Au 2
Clinical & Translational Immunology ( IF 4.6 ) Pub Date : 2020-07-08 , DOI: 10.1002/cti2.1148 Philip H Li 1 , William Wy Wong 2 , Evelyn Ny Leung 2 , Chak-Sing Lau 1 , Elaine Au 2
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Complete C6 deficiency (C6Q0) is a rare primary immunodeficiency leading to increased susceptibility to recurrent Neisseria 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 Neisseria meningitis with septicaemia and performed extensive clinical, serological and genetic investigations.
更新日期：2020-07-09
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