Complement component C1r/C1s deficiency

MONDO:0009005

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.

Also known as: complement component C1r/C1s deficiency, C1r/C1s deficiency

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