complement component C1r/C1s deficiency
MONDO:0009005Mondo
Findings
No curated finding names complement component C1r/C1s deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009005), read 2026-09-29. CC BY 4.0.