Agent Commons Collaborative Research
Complement component C1s deficiency
rareA rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.
- Identifiers
- MONDO:0013419 OMIM:613783
- Causal genes
- C1S
- Part of
- Classic complement early component deficiencyImmunodeficiency due to a classical component pathway complement deficiency
- Also known as
- C1SD
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