膨大な数のHLA遺伝子型を判定するDNAタイピング（HLA DNAタイピング）は，HLA適合造血細胞移植の実施に欠かせない臨床検査技術である。2010年代に開発された次世代シークエンシング（NGS）技術に基づくHLA DNAタイピング（NGS-HLA）法は，遺伝子全長レベルで既知，新規およびnullアレルを効率よく検出する比較的新しいHLA DNAタイピング技術である。この技術は，現在の主流である高解像度HLA DNAタイピング法（現行法）よりもさらに正確なHLA多型情報が得られるため，造血細胞移植医療分野に新たな有益情報を提供する可能性がある。この優れたタイピング技術は，2020年3月から日本骨髄バンクを介した患者HLA確認検査やドナーHLAオプション検査に導入されており，コーディネート期間の短縮や移植成績の向上が期待されている。本稿では，造血細胞移植におけるNGS-HLA法の利点...

Mesenchymal stem cells (MSCs) are multipotent progenitor that reported to be immune-privileged and immune-evasive. MSCs capable of differentiating into specific cell types for subsequent use in cell-based therapy. They express low levels human leucocyte antigen (HLA)-ABC no HLA-DR. Wharton’s jelly-derived (WJ-MSCs) were also found leukocyte G (HLA-G), which renders them immunosuppressive. This ...

It is unclear the extent to which best practices for phenotyping disease states from electronic medical records (EMRs) translate to phenotyping adverse drug events. Here we use statin-induced myotoxicity as a case study to identify best practices in this area. We compared multiple phenotyping algorithms using administrative codes, laboratory measurements, and full-text keyword matching to ident...

Background: Natural killer (NK) cells are the effector cells of innate immunity that respond to infection and tumor. Interactions between killer cell immunoglobulin like receptors (KIR) and human leukocyte antigen (HLA) class I molecules regulate NK cells responses to eliminate infected and transformed cells. Objective: To investigate the impact of KIR genes, HLA ligand genes, and KIR-HLA combi...

The literature review presents the characteristics of human leukocyte antigen (HLA)-B27 as a factor contributing to development psoriatic arthritis. HLA-B27 is class I surface encoded by major histocompatibility complex (MHC) B locus located on chromosome 6. main function present antigenic peptides CD8+ T-cells. most important genetic biomarker for arthritis, it provides phenotypic differentiat...

The secondary use of electronic health records (EHR) represents unprecedented opportunities for biomedical discovery. Central to this goal is, EHR-phenotyping, also known as cohort identification, which remains a significant challenge. Complex phenotypes often require multivariate and multi-scale analyses, ultimately leading to manually created phenotype definitions. We present Ontology-driven ...

background: the hla class i molecules serve as ligands for both t cell receptors and killer cell immunoglobulin-like receptors (kirs). objective: we investigated the hlac and hla-bw4 alleles as well as kirs expression on cd56 positive lymphocytes to evaluate whether these genes and molecules could influence ankylosing spondylitis (as) susceptibility, alone or in combination. methods: we typed 4...

Genes of the human leukocyte antigen (HLA)-DR15 haplotype show a strong association with disease risk for multiple sclerosis (MS).Current genotyping tools failed to pinpoint second HLA-DR allele, DRB5*01:01, besides well-known DRB1*15:01 gene, despite their close 100% linkage disequilibrium (LD).Functional studies illustrate complex mechanisms how both DR15 alleles shape CD4+ T cell repertoire ...

Introduction: Diffuse Large B- cell Lymphoma (DLBCL) is characterized by genetic and clinical heterogeneity. Different loci within the human leukocyte antigen (HLA) region have been implicated in susceptibility disease control of DLBCL. Methods: HLA typing was performed using Sequence-Specific Oligonucleotide (SSO) Primer (SSP) 60 DLBCL patients 250 healthy adult donors from local Bone Marrow r...