A study of HLA class I and class II 4-digit allele level in Stevens-Johnson syndrome and toxic epidermal necrolysis.

Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are represented by rare but life-threatening cutaneous adverse reactions to different drugs. Previous studies have found that in a Han Chinese population from Taiwan and other Asian Countries, a strong genetic association between HLA-class I alleles (B*15:02, B*58:01) and SJS and TEN was induced by carbamazepine and allopurinol, respectively. To identify genetic markers that covered the MHC region, we carried out a case-control association enrolling 20 Caucasian patients with SJS/TEN.

Idiopathic recurrent acute pericarditis: familial Mediterranean fever mutations and disease evolution in a large cohort of Caucasian patients.

Idiopathic recurrent acute pericarditis (IRAP) is suspected to be an autoimmune phenomenon. We studied 46 consecutive patients. We looked for: 1) the occurrence of new diagnoses of autoimmune diseases during our follow up; 2) HLA typing; and 3) the presence of the most frequent mutations linked to familial Mediterranean fever (FMF gene or MEFV).

Description of a new HLA-DRB1 allele, DRB1*1150.

We report the identification of a novel HLA-DRB1*11 using sequence-based typing. This new allele, officially named DRB1*1150, was detected while performing HLA-DRB1 high-resolution typing of a candidate for bone marrow transplantation. DRB1*1150 is identical to DRB1*1143 except at nucleotides 200 and 227, where a T is substituted by a C and a T by an A, respectively.

Characterization of two new HLA-B alleles by sequence-based typing: HLA-B*0817 and HLA-B*1311.

In this brief communication we report the characterization of two new HLA-B variants officially named HLA-B*0817 and HLA-B*1311. The HLA-B*0817 allele was identified in a Caucasoid male candidate for renal transplantation in the North Italy Transplant program. The nucleotidic sequence of exons 2, 3 and 4 of this novel allele is identical to that of HLA-B*0804 except for three point mutations in exon 2: from A to G at position 259, from C to G at position 261 and from G to A at position 302.

Identification of a novel HLA-DRB1 allele: DRB1*1353.

In this report we describe a new HLA-DRB1 allele, DRB1*1353, which was initially recognized by a discrepancy between the results obtained with polymerase chain reaction using sequence-specific oligonucleotide (PCR-SSO) and sequence-specific primers (PCR-SSP). Sequence-based typing revealed sequence differences with other known HLA-DRB1 alleles. DRB1*1353 is identical to DRB1*13011 except for two nucleotide substitutions at nucleotide 84 (C(r)G) and at nucleotide 140 (T(r)A).

An immunogenetic map of Lombardy (Northern Italy).

For this study we consulted the Bone Marrow Donors' Registry of Lombardy (Italy) and analyzed 43937 HLA-A,B phenotypes and 13922 HLA-A,B,DR phenotypes. We estimated the HLA-A,B and HLA-A,B,DR haplotype frequencies via the maximum-likelihood method. We analyzed the genetic structure of the 11 provinces of Lombardy by means of Principal Component Analysis and Correspondence Analysis, and estimated the variety of the different haplotypes at provincial level and the percentage of unique phenotypes at village level.

HLA typing in chronic type B, D and C hepatitis.

Aims: We aimed to test the hypothesis that susceptibility to chronic HBV, HDV and HCV infections or their pathology is influenced by host genetic factors.

Methods: The Human Leukocyte Antigens (HLA) (A, B, DR and DQ) were determined by microlymphocytotoxicity assay in patients with chronic C (n = 117), B (n = 97) or D (n = 27) hepatitis and their frequencies were compared with those of 489 healthy controls.

Results: No statistically significant association was found between any HLA antigen and chronic B or D hepatitis.