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complement component C1r/C1s deficiency

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.
Mondo Term and Equivalent IDs
MONDO:0009005:  complement component C1r/C1s deficiency
NCIT:C119991: 
UMLS:C3150274: