The first confirmed case with C3 deficiency caused by compound heterozygous mutations in the C3 gene; a new aspect of pathogenesis for C3 deficiency

Blood Cells, Molecules & Diseases
Miyuki KidaTadashi Ariga

Abstract

The complement system is an ancient cascade system that has a major role in innate and adaptive immunity. Component C3 is central to the three complement pathways. Hereditary compliment 3 (C3) deficiency characterized by severe recurrent infections and immune complex disorders is extremely rare disease. Since 1972, inherited C3 deficiency has been described in many families representing a variety of national origins; however, only 8 families of these cases have been identified their genetic defects. Interestingly, all except one (incomplete analysis) were shown to harbor homozygous C3 gene mutations. Previously we proposed a hypothesis, based on the unique process of C3 synthesis; C3 deficiency is not inherited as a simple autosomal recessive trait. Here, we report the first confirmed case with C3 deficiency caused by compound heterozygous mutations. They were a novel one base insertion (3176insT) in exon 24 which is predicted to result in a frameshift and a premature downstream stop codon (K1105X) in exon 26, and a nonsense mutation of C3303G (Y1081X) in exon 26 which was previously reported as homozygous mutations. This confirmed case suggests that our proposed hypothesis has prospects of a new aspect of pathogenesis for C3 d...Continue Reading

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Citations

Jan 6, 2010·Rheumatology·Ainara Rodriguez-MarcoPeter D Arkwright
Apr 25, 2009·PloS One·Magdalena JanziLennart Hammarström
Oct 6, 2015·The Journal of Allergy and Clinical Immunology·Yuka OkuraTadashi Ariga
Apr 20, 2011·Pediatrics International : Official Journal of the Japan Pediatric Society·Yuka OkuraTadashi Ariga

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