Genetic polymorphism of factor B (Bf) and C3 component of complement in type 1 (insulin-dependent) diabetes mellitus: BFQO allele observed in a diabetic child.

C3 and Bf polymorphisms were studied in 215 and 192 children with type 1 diabetes mellitus (IDDM), respectively. No significant differences in C3 phenotypes and allele frequencies were found between IDDM patients and a healthy population. The rare allele BfF1 was found in 9.

Genetic polymorphism of the C4 component of human complement in the Slovak population.

The distribution of C4 phenotypes and gene frequencies were studied in 104 genetically unrelated persons of Slovakia using high-voltage agarose gel electrophoresis with subsequent immunofixation. Five C4A alleles and three C4B alleles were detected. The gene frequencies were as follows: A2 = 0.

Genetic polymorphism of factor B of the complement system (Bf) in the Slovak population.

The distribution of factor B (Bf) phenotypes and gene frequencies were investigated in 280 genetically unrelated persons of the Slovak population. Thin-layer agarose gel high-voltage electrophoresis and subsequent immunofixation were used. A low frequency of the "rare" allele BfFl was observed (BfFl = 0.

Family study of natural killer cell activity in C1q-deficient patients with systemic lupus erythematosus-like syndrome: association between impaired natural killer cell function and C1q deficiency.

Impaired natural killer (NK) cell activity has been found in patients with systemic lupus erythematosus (SLE)-like syndrome. The mechanism by which NK cell function is impaired in SLE patients is not quite clear. We report here a family study of NK cell activity in C1q-deficient patients with SLE-like syndrome.

Hereditary angioedema in Czechoslovakia. Clinical, immunological, genetic and therapeutic studies of 16 families.

The analysis of the findings in 16 families with hereditary angioedema detected in Czechoslovakia over the years 1975-1986 is being presented. In 14 families C1-inhibitor deficiency and in two families afunction of C1-inhibitor was established. Of the total number of 175 examined family members C1-inhibitor defect was registered in 66 subjects (60 with deficiency and 6 with afunction), and of these 48 suffered from clinical symptoms of edematous attacks affecting the skin, larynx, intestine and urinary tract, whereas 18 subjects were asymptomatic.

In vitro effects of organic solvents on immunity indicators in serum.

Serum treatment in vitro with organic solvents (chloroform, ether, toluene) failed to produce an effect on immunoglobulin levels and activity. After chloroform and ether treatment, no complement activity could be determined, with chloroform-treated serum beginning to express anticomplement activity against autologous, allogenic and xenogenic sera. The classical pathway of complement activation (C1, C4, C2, C3) was primarily inhibited, whereas the alternative pathway remained unaffected.

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.