Contents

Search

complement C1s deficiency

Epidemiology: - rare Pathology: - impaired activation of the classical complement pathway - severe immune complex disease - features of systemic lupus erythematosus & glomerulonephritis Genetics: - mutations affecting the gene for complement C1s

Related

complement C1s

General

enzyme deficiency

Database Correlations

OMIM 613783

References

  1. OMIM :accession 613783
  2. Dragon-Durey MA, Quartier P, Fremeaux-Bacchi V et al Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases. J Immunol. 2001 Jun 15;166(12):7612-6. PMID: 11390518