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Article

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 - 1 Jan 2000

Kida Miyuki, Fujioka Hirotaka, Kosaka Yoshiyuki, Hayashi Kouhei, Sakiyama Yukio, Ariga Tadashi

Abstract excerpt

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...

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PMID: 18201916
DOI: 10.1016/j.bcmd.2007.11.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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