complement C1s deficiency
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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
More general terms
Additional terms
References
- ↑ OMIM https://mirror.omim.org/entry/613783
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/11390518