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Biomedical subjects

I Borelli

Publications and source records attributed to I Borelli.

35 records · Page 2Linked to original sources
PubMed1981

Persistence of cytotoxic antibodies to HLA-A,B,C antigens and to Ia-like antigens in parous women.

Cytotoxic antibodies to HLA-A,B,C and to Ia-like antigens were detected in about 8% of sera drawn from 1312 women several years after their last pregnancy. In the majority of sera anti Ia-like antigen antibodies were not associated with anti HLA-A,B,C antibodies. Persistence of both types of antibodies was not correlated with the number of pregnancies and with the time interval between the last immunizing stimulus and the drawing of the sample. Testing of the sera with a panel of HLA typed lymphocytes identified 20 sera specific for HLA-A,B alloantigens and 7 specific for Ia-like alloantigens.

Antibodies↗
PubMed1981

HLA antigens in juvenile dermatitis herpetiformis.

The incidence of histocompatibility antigens HLA-A, B, C, DR was studied in 32 Italian children with dermatitis herpetiformis. A significantly increased relative risk was found for B8 (R.R.=6.2), which was present in 50% of the patients as against 14% of the controls and for DR3 (R.R.=11.7), present in 69% of the patients as against 16%. DR7 also appeared to be increased, but only among DR3-negative patients. There was no significant difference in the incidence of DR3 between children with abnormal and normal jejunal biopsy, though there does seem to be a difference in expressivity of the intestinal involvement between DR3 apparent homozygous, DR3 heterozygous and DR3-negative patients.

Adolescent↗
PubMed1979

Two HLA-D and DR alleles are associated with coeliac disease.

A group of 45 children affected with Coeliac Disease (CD) was typed for HLA-A, B, C, D, and DR specificities. The most significant associations were found with two alleles of the D series, with both cellular and serological typing. It is suggested that the susceptibility to CD is determined by two different genes within the HLA region, the first in common with organ-specific autoimmune diseases and associated with DW3, the second possibly specific for CD and associated with Dw7.

Adolescent↗
PubMedDate not supplied

HLA-DR antigens in HBsAg-positive chronic active liver disease with and without associated delta infection.

The A, B, C and DR locus specificities of the human leukocyte antigens system (HLA) were determined in 45 delta-positive and 44 delta-negative Italian patients, all with HBsAg-positive chronic active liver disease; controls were 526 healthy Italian blood donors matched for age, sex and geographical origin. HLA-A, B, C gene frequencies were not significantly changed. In delta-positive patients, the frequencies of the DR locus specificities were: DR2, 37.8%; DR3, 20%; DR4, 11.1%. In the delta-negative patients, the frequencies were: DR2, 13.6%; DR3, 36.4%; DR4, 0%. Control frequencies were: DR2, 19.4%; DR3, 17.1%; DR4, 18.5%. The corrected p values of the differences between controls and delta-positive patients were: DR2, pc = 0.046; DR3, pc = NS (not significant); DR4, pc = NS. The corrected p values of the differences between controls and delta-negative patients were: DR2, pc = NS; DR3, pc = 0.03; DR4, pc = 0.002. These findings show that: (a) DR3, a genetic marker of autoimmunity, might assist the establishment of chronic HBsAg liver disease in the absence of delta superinfection; (b) DR2 is linked with failure to clear the delta agent, and (c) DR4 may protect from virus B persistence. Identification of adventitious factors such as delta may help uncover a subgroup of HBsAg carriers who are genetically predisposed to develop chronic liver disease.

Adolescent↗
PubMedDate not supplied

Distribution of tumor necrosis factor alleles (NcoI RFLP) and their relationship to HLA haplotypes in an Italian population.

The NcoI RFLP of the tumor necrosis factor (TNF) beta gene was analyzed in a panel of 105 unrelated healthy Italian blood donors. The gene frequencies of the 10.5 kb and 5.5 kb allele were 0.73 and 0.27, respectively. The 5.5 kb band was significantly positively associated with HLA-A1, B8, DR17.1, and C4AQ0, and negatively associated with DR7.2, DQw9 and C4A6, all being specificities which belong to two well-known Caucasoid ancestral haplotypes. When the population was subdivided on the basis of TNF phenotypes, different linkage disequilibria between HLA alleles were detected in the three phenotypic classes. From this analysis it was possible to relate preferential HLA associations, most of which are characteristic of ancestral haplotypes, to TNF polymorphism.

Alleles↗
PubMedDate not supplied

HLA haplotypes and hormonal studies in 25 Italian families of patients with classical and non-classical 21-OH deficiency.

To investigate the genetic polymorphisms of the HLA region and the molecular defect of the P450c21B gene in congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, we studied 89 individuals from 25 families of CAH patients (14 classical forms, 11 non-classical forms). The following immunogenetic and hormonal investigations were performed: HLA-A and B typing, restriction fragment length polymorphism (RFLP) analysis of 21-hydroxylase A and B genes, and serum 17-OH-progesterone values determined basally and 60 min after ACTH stimulation. In the patients affected by the classical form, RFLP analysis revealed 5 deletions and 1 gene conversion in 6 haplotypes and no molecular defect in the others, who probably carry point mutations. In the patients with non-classical form we found P450c21A duplication in 11/18 haplotypes; 9 of the 11 patients shared the HLA-B14 allele. Utilizing both hormonal and genetic data we identified two cryptic forms; hormonal data alone failed to differentiate heterozygous from normal individuals.

17-alpha-Hydroxyprogesterone↗
PubMedDate not supplied

HLA class II gene frequencies in Italy.

The frequency of HLA alleles at HLA-DR and DQ loci, and that of the related HLA-D specificities, were estimated in the Italian population. 109 healthy unrelated subjects, born in several Italian regions and living in the district of Torino, were studied. DNA typing was achieved by the restriction fragment length polymorphism (RFLP) analysis of HLA-DR beta, DQ alpha and beta genes, hybridizing specific probes with TaqI digested DNAs. The present study allowed to define in more detail the HLA class II polymorphisms in the Italian population.

Epitopes↗
PubMedDate not supplied

[Analysis of a sample of the Italian population for HLA-DR antigen. Gene frequencies and gametic associations].

A random sample of 177 individuals from the Italian population was typed for eight HLA-DR antigens. Gene frequencies and linkage disequilibria were calculated. The most different frequencies, when compared with other european populations, are those of DR5 and DRw6. Most of the linkage disequilibria observed are the same found in other european populations, but some disequilibria present only in Italian population were also observed.

Blood Donors↗
PubMedDate not supplied

Familial membranous nephropathy.

Numerous HLA studies suggest that genetic factors play an important role in the development of membranous nephropathy (MN). We studied seven patients with idiopathic MN, from three unrelated families of Italian ancestry. Complement phenotype analysis and restriction fragment length polymorphism (RFLP) typing of HLA class II and of the switch region genes were done in family members. In the first family, the father, one son, and one daughter had MN; another daughter had clinical glomerulonephritis. The three members with MN shared one HLA haplotype carrying DR beta 11; in the two siblings with the disease, the second HLA haplotype carried the DR beta 3.2 allele. In families 2 and 3, two brothers had MN: in family 2, they differed in at least one haplotype; in family 3, they differed in both haplotypes. Only family 3 was informative with regard to the RFLP of the switch region genes: the two siblings were identical for both Ig heavy chain haplotypes. No clinical, laboratory or morphologic features consistent with a secondary form of the disease were found. Familial clustering of MN suggests a genetically transmitted mechanism.

Adult↗