This study was aimed to identify a novel HLA-DRB1 allele from a Chinese potential hemopoietic stem cell donor of Northeast China. A rare HLA-DRB1 allele was initially detected by Luminex PCR-SSO typing, then the sample was sequenced by sequence-based typing (SBT) and the alignments of sample's alleles was identified by single allele-specific sequencing strategy. The results revealed the existence of a new allele which differs from the closest matching allele DRB1*03:06 by a single nucleotide substitution at position 239, where C→G in exon 2, resulting in an amino acid exchange from Thr to Arg at codon 51. It is concluded that a novel allele has been confirmed and its name DRB1*03:80 is officially assigned by the WHO Nomenclature Committee in February 2012.
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http://dx.doi.org/10.7534/j.issn.1009-2137.2014.02.044 | DOI Listing |
Front Immunol
January 2025
Institut National de la Santé et de la Recherche Médicale (INSERM), Unité Mixte de Recherche U1236, Université Rennes, Etablissement Français du Sang Bretagne, LabEx IGO, Rennes, France.
Introduction: Myeloid cells trafficking from the periphery to the central nervous system are key players in multiple sclerosis (MS) through antigen presentation, cytokine secretion and repair processes.
Methods: Combination of mass cytometry on blood cells from 60 MS patients at diagnosis and 29 healthy controls, along with single cell RNA sequencing on paired blood and cerebrospinal fluid (CSF) samples from 5 MS patients were used for myeloid cells detailing.
Results: Myeloid compartment study demonstrated an enrichment of a peculiar classical monocyte population in 22% of MS patients at the time of diagnosis.
Background The role of specific human leukocyte antigen (HLA) alleles as a risk factor for susceptibility, protection, and response to cyclophosphamide (CYC) treatment has been studied in patients with idiopathic nephrotic syndrome (INS). This study investigates the association of class II HLA alleles and the treatment outcome in children with steroid-dependent nephrotic syndrome (SDNS) who were treated with CYC. Methods A total of 77 children who were diagnosed with SDNS and had received CYC at least a year before were enrolled.
View Article and Find Full Text PDFFront Immunol
January 2025
Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Introduction: Human Cytotoxic-T-lymphocyte-antigen-4 (CTLA-4) insufficiency caused by heterozygous germline mutations in is a complex immune dysregulation and immunodeficiency syndrome presenting with reduced penetrance and variable disease expressivity, suggesting the presence of disease modifiers that trigger the disease onset and severity. Various genetic and non-genetic potential triggers have been analyzed in CTLA-4 insufficiency cohorts, however, none of them have revealed a clear association to the disease. Multiple HLA haplotypes have been positively or negatively associated with various autoimmune diseases and inborn errors of immunity (IEI) due to the relevance of MHC in the strength of the T cell responses.
View Article and Find Full Text PDFVirol J
January 2025
Department of Microbiology and Virology, School of Medicine, Alborz University of Medical Sciences, Alborz, Iran.
Background: Human T-cell lymphotropic virus type 1 (HTLV-1) is a retrovirus that leads to lifelong infection and multiple diseases, including HAM/TSP and ATLL. Despite extensive research, the exact pathophysiology of HTLV infection and its related diseases is enigmatic. In this study, we aimed to review and analyze the effect of different HLA alleles as protective or predisposing factors in HTLV-1 infection and its progression to related diseases.
View Article and Find Full Text PDFSci China Life Sci
January 2025
State Key Laboratory of Genetic Engineering, Lab for Evolutionary Synthesis, School of Life Sciences, Human Phenome Institute, Fudan University, Shanghai, 200438, China.
Human leukocyte antigen (HLA) genes in the major histocompatibility complex (MHC) region are crucial for immunity and are associated with numerous diseases and phenotypes. The MHC region's complexity and high genetic diversity make it challenging to analyze using short-read sequencing (SRS) technology. We sequence the MHC region of 100 Han Chinese individuals using both long-read sequencing (LRS) and SRS platforms at approximately 30X coverage to study genetic alterations and their potential functional impacts.
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