Characterisation of the Novel HLA-DRB1*09:01:18 Allele by Sequencing-Based Typing.
HLA-DRB1*09:01:18 differs from HLA-DRB1*09:01:02:01 by one nucleotide substitution in codon 44 in exon 2.
Humans↗
Biomedical subjects
Vincent Elsermans
Publications and source records attributed to Vincent Elsermans.
Characterisation of the Novel HLA-B*40:01:02:68Q Allele by Sequencing-Based Typing.
HLA-B*40:01:02:68Q differs from HLA-B*40:01:02:01 by one nucleotide substitution in intron 2 at the splice site with exon 3.
Humans↗
Characterisation of the Novel HLA-DRB3*02:238 Allele by Sequencing-Based Typing.
HLA-DRB3*02:238 differs from HLA-DRB3*02:24 by one nucleotide substitution in codon 60 in exon 2.
Humans↗
Guidelines From the French-Speaking Society for Histocompatibility and Immunogenetics (SFHI) for Harmonisation of HLA Genotyping in Autoimmune Diseases, Drug Hypersensitivity and Pharmacogenetics.
HLA molecules play a central role in the adaptive immune response. Their high polymorphism influences individual susceptibility to various autoimmune diseases and certain drug-induced hypersensitivities. In France, HLA genotyping is classified as a medical genetics procedure and is strictly regulated. The Société Francophone d'Histocompatibilité et d'Immunogénétique (SFHI) has established national guidelines outlining clinically validated indications, required resolution levels and interpretation criteria based on robust data. These guidelines are particularly relevant for common clinical contexts, including autoimmune diseases and pharmacogenetic testing. Well-established associations include HLA-DQB1*02/DQA1*05 (DQ2) and HLA-DQB1*03:02/DQA1*05 (DQ8) with celiac disease, HLA-B*27 with spondyloarthritis, HLA-DQB1*06:02 with type 1 narcolepsy, HLA-A*29 with Birdshot chorioretinopathy and several pharmacogenetic risk alleles such as HLA-B*57:01 (abacavir), HLA-B*15:02 and HLA-A*31:01 (carbamazepine) and HLA-B*58:01 (allopurinol). In immunotherapy, the efficacy of tebentafusp has been shown to depend on HLA-A*02:01 positivity. HLA alleles must be interpreted as relative risk factors, not absolute predictors. Critical analysis of HLA-related scientific literature requires consideration of the genotyping technique, typing resolution, allele frequencies within the studied population and environmental factors. High-resolution typing is essential in pharmacogenetics and recommended in selected autoimmune disorders. Interpretation should be conducted by qualified medical biologists, integrating clinical context, allelic diversity and recent technological advances, particularly next-generation sequencing. HLA genotyping represents a valuable tool in diagnosis and risk assessment, with increasing importance in the era of personalised medicine.
Humans↗
Characterisation of the Novel HLA-C*03:703 Allele by Sequencing-Based Typing.
HLA-C*03:703 differs from HLA-C*03:620 by one nucleotide substitution in codon 114 in exon 3.
Humans↗
Characterisation of the Novel HLA-B*27:05:64 Allele by Sequencing-Based Typing.
HLA-B*27:05:64 differs from HLA-B*27:05:02:05 by one nucleotide substitution in codon -21 in exon 1.
Humans↗
Characterisation of the Novel HLA-B*44:357:02 Allele by Sequencing-Based Typing.
HLA-B*44:357:02 differs from HLA-B*44:357:01 by one nucleotide substitution in codon 160 in exon 3.
Humans↗
Characterisation of the Novel HLA-C*07:1184 Allele by Sequencing-Based Typing.
HLA-C*07:1184 differs from HLA-C*07:01:01:01 by one nucleotide substitution in codon-18 in exon 1.
Humans↗
Characterisation of the Novel HLA-DPB1*1784:01 Allele by Sequencing-Based Typing.
HLA-DPB1*1784:01 differs from HLA-DPB1*514:01 by one nucleotide substitution in codon 57 in exon 2.
Humans↗