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Article

Molecular basis of hereditary C1q deficiency--revisited: identification of several novel disease-causing mutations.

Genes and immunity - 1 Dec 2011

Schejbel L, Skattum L, Hagelberg S, Åhlin A, Schiller B, Berg S, Genel F, Truedsson L, Garred P

Abstract excerpt

C1q is the central pattern-recognition molecule in the classical pathway of the complement system and is known to have a key role in the crossroads between adaptive and innate immunity. Hereditary C1q deficiency is a rare genetic condition strongly associated with systemic lupus erythematosus and increased susceptibility to bacterial infections. However, the clinical symptoms may vary. For long, the molecular...

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PMID: 21654842
DOI: 10.1038/gene.2011.39

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