Screening for B cell specific antisera. Results from region Italy 1.
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Biomedical subjects
Publications and source records attributed to S Trabace.
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Report is given of a mentally retarded and dysmorphic patient with a partial monosomy 8q, resulting from a de novo translocation t(4;8)(q13;q213). Oetermination of erythrocyte glutathione reductase (E-GSR) activity in the proposita shows activity in the normal range. Previous evidence for of the assignment of E-GSR locus to the short arm of chromosome 8 is confirmed.
42 patients (33 males and 9 females) with chromic active hepatitis (CAH) mostly HBsAg+, were typed for 24 alleles of the A and B loci. Diagnosis was performed according to the criteria outlined by the European Association for the Study of the Liver. The increased frequency of HLA-A3 (47.6% instead of 19.1% in 266 healthy controls) is significant after correction. The relative risk is 3.83. The phenotypic association A3/Bw35 is also increased (28.5% instead of 6.0 in the control group). The risk of the A3/Bw35 association is 6.25. The risk of A3 calculated in patients lacking Bw35 is 1.6. A family study in 5 patients over 5 showed an haplotype A3/Bw35.
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Thirty-six coeliac children on gluten-containing diet were studied for AGA IgA and IgG levels. Patients were typed for HLA-A, -B, -C, -DR, -DQ antigens and data were analysed for any correlation between HLA-DR phenotype and AGA levels. AGA IgA and/or IgG were present in all these children. Subjects negative for DR3 or DR7 showed lower AGA levels than those DR3 + and/or DR7 positive. The data suggest that these patients could escape diagnosis if screening for those requiring intestinal biopsy is based only on AGA assay. The observation that coeliac children negative for DR3 and DR7 showed lower AGA levels is consistent with clinical and genetic heterogeneity of coeliac disease.
In order to verify the hypothesis that Italian patients with systemic lupus erythematosus (SLE) may be immunogenetically distinct from SLE patients born in other regions, we investigated the HLA class I and II antigens and their relation with the various autoantibodies characteristic of the disease in an Italian SLE population. Forty-four SLE patients were typed for HLA-A, -B, -C, -DR and -DQ antigens; sera from the same patients were tested for the presence of antibodies to the nuclear or cytoplasmic antigens Ro/SSA, La/SSB, Sm and RNP (ENA). Results of HLA typing showed that the frequencies of DR3 and DQw2 were increased in patients compared with controls. Analysis of the correlations between HLA antigens and anti-ENA antibodies showed that both DQw2 and DR3 were increased in patients with anti-Ro and/or antiLa antibodies, while in patients with anti-Sm and/or antiRNP antibodies the DQw2 and DR4 were found to be increased. Only DQw2 was found to be significantly increased in anti-ENA positive patients. These results might suggest that Italian patients with SLE are, at least in part, different from lupus patients living in other geographical areas and suggest the association of DQw2 with the autoantibody response to ENA in SLE.