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Article

Homozygosity for a novel mutation in the C1q C chain gene in a Turkish family with hereditary C1q deficiency.

Journal of investigational allergology & clinical immunology - 1 Jan 2010

Gulez N, Genel F, Atlihan F, Gullstrand B, Skattum L, Schejbel L, Garred P, Truedsson L

Abstract excerpt

Hereditary complete deficiency of complement component C1q is associated with a high prevalence of systemic lupus erythematosus and increased susceptibility to severe recurrent infections. An 11-year-old girl was screened for immunodeficiency due to a history of recurrent meningitis and pneumonia...

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PMID: 20635792

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20635792-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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