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  • Title: Deficiency of C2, the second complement component, in the family of a patient with SLE-like syndrome: the first case of hereditary C2 deficiency in Czechoslovakia.
    Author: Starsia Z, Zitnan D, Loos M, Stefanovic J, Bosák V, Niks M, Tomanová H, Lukác J, Lulovicová M.
    Journal: Haematologia (Budap); 1987; 20(4):215-20. PubMed ID: 3428724.
    Abstract:
    A family with hereditary C2 deficiency was discovered in Czechoslovakia. The proband is a 47-year-old female with a SLE-like syndrome and zero activity of the classical complement pathway. Functional CH50, C1, C2, and C4 estimations for all family members revealed a homozygous C2 deficiency in both the proband and her elder sister, and several heterozygotic C2-deficient individuals. The defect segregates with haplo-type HLA A25, B18, DR2.
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