complement component C1r/C1s deficiency
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:0000015
classic complement early component deficiency
is_a
MONDO:0015699
immunodeficiency due to a classical component pathway complement deficiency
is_a
complement component C1r/C1s deficiency
exact