Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.

ABSTRACT: The complement system is crucial for defense against pathogens and the removal of dying cells or immune complexes. Thus, clinical indications for possible complete complement deficiencies include, among others, recurrent mild or serious bacterial infections as well as autoimmune diseases (AID). The diagnostic approach includes functional activity measurements of the classical (CH50) and alternative pathway (AP50) and the determination of the C3 and C4 levels, followed by the quantitative analysis of individual components or regulators. When biochemical analysis reveals the causal abnormality of the complement deficiency (CD), molecular mechanisms remains frequently undetermined. Here, using direct sequencing analysis of the coding region we report the pathogenic variants spectrum that unde

SUBMITTER: El Sissy C 

PROVIDER: S-EPMC6694794 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature