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complement C2 deficiency
Pathology:
- results in deficiency of the complement classical pathway
- associated with the development of autoimmune disease, mainly systemic lupus erythematosus
Genetics:
- associated with defects in complement C2
Clinical manifestations:
- skin & joint manifestations are common
- renal disease is relatively rare
- recurrent or invasive infections (variable)
General
genetic disease of the immune system
Database Correlations
OMIM 217000
References
OMIM :accession 217000