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Case Reports
. 1987;20(4):215-20.

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

Z Starsia  1 , D Zitnan, M Loos, J Stefanovic, V Bosák, M Niks, H Tomanová, J Lukác, M Lulovicová
Affiliations
  • PMID: 3428724
Case Reports

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

Z Starsia et al. Haematologia (Budap). 1987.

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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