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.
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.
Department of Microbiology and Immunology, Medical Faculty, Comenius University, Bratislava, Czechoslovakia.
Z
Z
Starsia
D
D
Zitnan
M
M
Loos
J
J
Stefanovic
V
V
Bosák
M
M
Niks
H
H
Tomanová
J
J
Lukác
M
M
Lulovicová
D000328:Adult; D003175:Complement C2 / Q000172:deficiency* / Q000235:genetics; D003171:Complement Pathway, Classical; D003604:Czechoslovakia; D005260:Female; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D007251:Influenza, Human / Q000209:etiology; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000276:immunology; D010375:Pedigree; D012008:Recurrence
D003175:Complement C2; D006680:HLA Antigens