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The histocompatibility complex and rheumatic diseases.

K Kemple, R Bluestone

    The Medical Clinics of North America
    |March 1, 1977
    PubMed
    Summary
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    Histocompatibility typing, particularly Human Leukocyte Antigen (HLA) B27 testing, aids in diagnosing seronegative spondyloarthropathies like ankylosing spondylitis. Its role in prognosis and family counseling requires further research.

    Area of Science:

    • Immunogenetics
    • Rheumatology
    • Molecular Biology

    Background:

    • Histocompatibility typing, especially Human Leukocyte Antigen (HLA) antigens, is crucial in rheumatic diseases research and clinical practice.
    • Beyond serologically defined HLA A and B series, other immunologic determinants within the HLA complex, including D-locus (MLC) determinants, complement components, and immune response genes, are under investigation.
    • The major histocompatibility complex (MHC) products are inherited as co-dominant alleles, with population and family studies mapping these loci to human chromosome 6.

    Purpose of the Study:

    • To explore the role of histocompatibility typing and specific Human Leukocyte Antigen (HLA) antigens in the diagnosis and understanding of rheumatic diseases.
    • To highlight the strong association between the HLA B27 antigen and seronegative spondyloarthropathies.
    • To evaluate the clinical utility of HLA B27 testing in diagnosing early or atypical cases of these conditions.

    Related Experiment Videos

    Main Methods:

    • Review of population and family studies characterizing HLA allele frequencies and mapping MHC loci.
    • Analysis of disease associations, focusing on the link between HLA antigens and autoimmune rheumatic diseases.
    • Evaluation of the clinical application and diagnostic value of Human Leukocyte Antigen (HLA) B27 testing.

    Main Results:

    • Specific Human Leukocyte Antigen (HLA) antigens are associated with autoimmune diseases, with the strongest link found in seronegative spondyloarthropathies and the B27 antigen.
    • Seronegative spondyloarthropathies associated with HLA B27 include ankylosing spondylitis, Reiter's syndrome, psoriatic arthropathy, colitic arthropathy, Yersinia arthritis, and some juvenile rheumatoid arthritis cases.
    • Human Leukocyte Antigen (HLA) B27 testing is most beneficial for diagnosing difficult or atypical cases of seronegative spondyloarthropathies, though its prognostic and familial counseling value is not well-established.

    Conclusions:

    • Human Leukocyte Antigen (HLA) typing, particularly B27 testing, is a valuable tool for diagnosing seronegative spondyloarthropathies.
    • The precise pathogenetic mechanisms linking the major histocompatibility complex (MHC) to these rheumatic diseases remain speculative but likely involve abnormal immune response genes.
    • Further research is needed to establish the prognostic significance and utility of Human Leukocyte Antigen (HLA) B27 testing in family counseling for rheumatic diseases.