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Article

Combined heterozygous deficiency of the classical complement pathway proteins C2 and C4.

Journal of clinical immunology - 1 Mar 1997

Hartmann D, Fremeaux-Bacchi V, Weiss L, Meyer A, Blouin J, Hauptmann G, Kazatchkine M, Uring-Lambert B

Abstract excerpt

Genetic deficiencies of components of the classical pathway of complement activation are associated with an increased risk for the development of autoimmune and immune complex-mediated diseases. In the present study we report on the molecular and clinical features associated with combined heterozygous C4 and C2 deficiency in 15 individuals investigated within six families. Approximately 30% of the individuals...

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Source

Identifiers

PMID: 9083894
DOI: 10.1023/a:1027334716982

Genes

C2
C4A
C4B

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Combined heterozygous deficiency of the classical complement pathway proteins C2 and C4.PMID 9083894Read ↗

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