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Related Experiment Videos

Mixed connective tissue disease in siblings.

J R Horn, J J Kapur, S E Walker

    Arthritis and Rheumatism
    |July 1, 1978
    PubMed
    Summary
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    This study investigated autoimmune disease in a family with mixed connective tissue disease (MCTD). A specific human leukocyte antigen (HLA) type was strongly associated with the disease and related rheumatic complaints within the kindred.

    Area of Science:

    • Immunogenetics
    • Rheumatology
    • Human Genetics

    Background:

    • Mixed connective tissue disease (MCTD) is a complex autoimmune disorder.
    • Familial aggregation of autoimmune diseases suggests a genetic component.
    • The role of human leukocyte antigen (HLA) in MCTD pathogenesis requires further elucidation.

    Purpose of the Study:

    • To investigate the prevalence and expression of autoimmune disease within a kindred with diagnosed MCTD.
    • To identify potential genetic associations, specifically HLA genotypes, with MCTD and related rheumatic conditions.

    Main Methods:

    • Clinical evaluation of 18 family members across three generations for signs of autoimmune disease.
    • Serological testing for antinuclear antibodies (ANA), antibodies to ribonucleoprotein (anti-RNP), and rheumatoid factor (RF).

    Related Experiment Videos

  • HLA genotyping of affected siblings and relatives with rheumatic complaints.

    • Main Results:

    • Subclinical or incomplete MCTD manifestations were observed in 8 relatives.
    • High-titer ANA and anti-RNP antibodies were exclusive to the MCTD-diagnosed siblings.
    • Rheumatoid factor was positive in 9 of 17 relatives. An identical HLA genotype (11,12/2,12) was found in the affected siblings and inherited by 3 relatives with rheumatic complaints.

    Conclusions:

    • A specific HLA genotype is strongly associated with mixed connective tissue disease and associated rheumatic conditions within this family.
    • This kindred provides evidence for a genetic predisposition to inflammatory connective tissue diseases linked to specific HLA types.