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The most common clinical presentation of C1q deficiency is systemic lupus erythematosus (SLE) like syndrome. This deficiency is the strongest known genetic risk factor for SLE. The age of onset is earlier and the disease can be very severe, with significant central nervous system (CNS) involvement and nephritis. The cutaneous manifestations are typically prominent, and skin biopsies demonstrate IgG, IgM, and C3 deposition, characteristic for systemic lupus erythematosus (SLE). There is also an increased frequency of infections with pyogenic organisms.
Diagnosis
Diagnostic recommendations
Additional Information
Therapeutic options
- Fresh frozen plasma is used for emergent replacement of complements components. Supportive therapy is used for complement deficiencies. Prophylactic antibiotics for the infections.
- Complement deficiency, eMedicine
- Complement deficiency, eMedicine