In a family of four patients with ankylosing spondylarthritis, the study of HLA typing has permitted to establish the dissociated transmission of the B27 antigen and the spondylarthritis: as a matter of fact, if the father and his two sons have the disease, and carry the B27, one of the daughters is also definitely affected with spondylarthritis according to New York criteria, and does not carry the B27. This young woman, also, does not present in her haplotype the genes of susceptibility to psoriasis, B13, B17, CW6, DR7, nor the antigens giving cross reactions with B27, type CREG, B7, B22, B40. So, this young woman seems to have inherited from her father a genetic predisposition toward the disease without transmission of antigen B27 and it is supposed that if this gene is linked to the HLA system by an unbalanced binding, it was transmitted after recombination in her father.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Relationships between emotional state, sleep disturbance and health-related quality of life in patients with axial spondyloarthritis.
Clin Rheumatol
January 2025
Department of Rheumatology and Immunology, Songjiang Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, 746 Zhongshan Middle Road, Songjiang District, Shanghai, 201600, China.
Background: Axial spondyloarthritis (ax-SpA) is an autoinflammatory disease affecting multiple organs. While emphasizing the treatment of chronic diseases, it has been found that the prevalence of mental disorders and insomnia in patients is also increasing. We investigated mood status, sleep quality and the health-related quality of life (HRQoL) in these patients.
View Article and Find Full Text PDFA guideline on biomarkers in the diagnosis and evaluation in axial spondyloarthritis.
Front Immunol
November 2024
Department of Rheumatology, The Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.
Article Synopsis
- - The guideline aims to assist in choosing biomarkers for diagnosing and evaluating patients with axial spondyloarthritis (axSpA) through a collaboration of experts and evidence-based strategies.
- - A total of 20 recommendations were made, including strong suggestions for HLA-B27 testing and regular monitoring of CRP/ESR, while others focused on potential biomarkers for various clinical purposes.
- - The guideline emphasizes that healthcare professionals should consider costs, accessibility, and patient preferences when selecting tests, and it provides a toolkit of endorsed biomarkers for better clinical decision-making.
HLA-B*51:01 in Iranian patients with Behcet uveitis syndrome.
Reumatol Clin (Engl Ed)
November 2024
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:
Background: Behcet's disease (BD) is a multisystem disorder prevalent along the historic Silk Road, with Behcet's uveitis (BU) representing a significant complication contributing to disability. Various studies have linked different HLA alleles with BD across diverse populations.
Methods: In this study, we investigated the association between HLA-B51:01/x and HLA-B27/x genotypes with Behcet's uveitis in 50 unrelated Iranian patients diagnosed with Behcet's uveitis, comparing them to a control group of 70 healthy individuals.
The Impact of Different MEFV Genotypes on Clinical Phenotype of Patients with Familial Mediterranean Fever: Special Emphasis on Joint Involvement.
Eur J Pediatr
October 2024
Department of Pediatric Rheumatology, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Türkiye.
Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disease worldwide. In this retrospective cohort study, we aimed to assess the effects of various MEFV genotypes on the clinical characteristics of the patients, with a special focus on the joint involvement. In total, 782 patients with FMF were categorized into 3 groups according to the MEFV mutation; Group 1: Patients homozygous for M694V; Group 2: Patients carrying other pathogenic MEFV variants in exon 10 in homozygous or compound heterozygous states; and Group 3: FMF patients with other variants or without mutations.
View Article and Find Full Text PDFGeneration of induced pluripotent stem cells from an HLA-B27 positive ankylosing spondylitis patient with syndesmophyte formation.
Stem Cell Res
October 2024
Division of Allergy, Immunology & Rheumatology, Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan; Division of Allergy, Immunology & Rheumatology, Department of Internal Medicine, National Taiwan University Hospital Yunlin Branch, Yunlin, Taiwan; College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Medical Education and Research, National Taiwan University Hospital Yunlin Branch, Yunlin, Taiwan. Electronic address:
Human leukocyte antigen (HLA)-B27 is the genetic marker for ankylosing spondylitis (AS). Here, we generated induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells of a male AS patient carrying HLA-B27 with syndesmophyte formation by using the Sendai-virus delivery system. The resulting iPSCs had a normal karyotype, expressed pluripotent markers, and could differentiate into three germ layers.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!