There are no studies on HLA analysis in patients in whom Graves' disease (GD) hyperthyroidism has been preceded by ≥1 stressful event. The aim of the present study was to identify predisposing or protecting HLA alleles and their effects on the course of GD in this subset of patients. We performed serological HLA typing in 58 Caucasian patients with stress-related GD and in 130 matched healthy controls (HC). We also performed genomic HLA typing in 20/58 patients and in all HC. Five HLA alleles and three loci were more frequent in patients compared to HC: B8, Cw7, C*07, C*17, DR3, DR4, DRB1*04, and DQ2. In contrast, B14 was less frequent in patients than in HC. Depending on outcome after ATD withdrawal (remission, exacerbation on-ATD, relapse off-ATD), in patients, some alleles/loci were over-represented, while others were under-represented. Age, FT3, and FT4 fold increase over the upper normal limit at onset were different depending on the allele/locus carried. In GD patients with stress-triggered hyperthyroidism, HLA typing may be helpful in predicting the outcome of the disease after ATD withdrawal.
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http://dx.doi.org/10.1007/s12020-016-0909-6 | DOI Listing |
Ocul Immunol Inflamm
January 2025
Departamento de Inmunología, Oftalmología y ORL, Facultad de Medicina, Universidad Complutense de Madrid, Madrid, Spain.
Purpose: HLA-G is a non-classical HLA class I gene encoding a molecule endowed with immunomodulatory properties, playing important immunosuppressive and tolerogenic roles in immuno-privileged organs. Fluctuations in its expression levels have been correlated with the predisposition to autoinflammatory disorders, notably uveitis, characterized by inflammation of the uvea. In the present work, DNA was obtained from saliva samples of 147 Spanish patients with uveitis, with subsequent analysis focusing on the distribution of polymorphisms within the 3'UTR region of the gene (a region known to modulate the expression of the HLA-G molecule).
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 PDFNPJ Syst Biol Appl
January 2025
Department of Immunology, University of Pittsburgh, Pittsburgh, PA, USA.
T cells mediate pathogenesis of several autoimmune disorders by recognizing self-epitopes presented on Major Histocompatibility Complex (MHC) or Human Leukocyte Antigen (HLA) complex. The majority of autoantigens presented to T cells in various autoimmune disorders are not known, which has impeded autoantigen identification. Recent advances in immunopeptidomics have started to unravel the repertoire of antigenic epitopes presented on MHC.
View Article and Find Full Text PDFJoint Bone Spine
January 2025
Marmara University, Institute of Health Sciences, Department of Medical Biology and Genetics, Istanbul, Turkey; Department of Medical Biology, School of Medicine, Marmara University, Istanbul, Turkey. Electronic address:
Objective: Bamboo spine is the most severe complication of Axial spondyloarthritis (AxSpA). This study aims to address whether haplotypes of endoplasmic reticulum aminopeptidase (ERAP)1 and ERAP2 single nucleotide polymorphisms (SNPs), previously associated with AXSPA, are associated with the development of bamboo spine in an AxSpA cohort.
Methods: The study included 192 patients with AxSpA followed in MARS (MARmara Spondyloarthritis) clinic and fulfilling the modified New York criteria.
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