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

ABSTRACT:

Objectives

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.

Methods

Two variants in C6 were identified by next-generation sequencing and confirmed by Sanger sequencing in an index case of C6Q0. Immunological investigations, complement haemolytic assays (CH50/AH50), C6 gene sequencing and quantification of serum C6 levels were

SUBMITTER: Li PH 

PROVIDER: S-EPMC7343556 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature