Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Down's syndrome: problems of immunodeficiency.

A G Ugazio

    Human Genetics. Supplement
    |January 1, 1981
    PubMed
    Summary
    This summary is machine-generated.

    Individuals with Down syndrome (DS) exhibit immunodeficiency, leading to increased infections and malignancies. This may stem from impaired thymus function affecting T-lymphocyte development.

    Related Concept Videos

    You might also read

    Related Articles

    Articles linked to this work by shared authors, journal, and citation graph.

    Sort by
    Same author

    Anti-infective prophylaxis for primary immunodeficiencies: what is done in Italian Primary Immunodeficiency Network centers (IPINet) and review of the literature.

    Journal of biological regulators and homeostatic agents·2014
    Same author

    Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience.

    Bone marrow transplantation·2005
    Same author

    Long term follow up of children with myocarditis treated by immunosuppression and of children with dilated cardiomyopathy.

    Heart (British Cardiac Society)·2004
    Same author

    B cell function after haploidentical in utero bone marrow transplantation in a patient with severe combined immunodeficiency.

    Bone marrow transplantation·2002
    Same author

    Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.

    Proceedings of the National Academy of Sciences of the United States of America·2001
    Same author

    Haploidentical peripheral blood and marrow stem cell transplantation in nine cases of primary immunodeficiency.

    Haematologica·2001

    Area of Science:

    • Immunology
    • Genetics
    • Developmental Biology

    Background:

    • Down syndrome (DS) is characterized by increased susceptibility to infections, malignancies, and autoimmune disorders.
    • Laboratory and pathological findings indicate an underlying immunodeficiency in individuals with DS.
    • Reduced T-lymphocyte counts and impaired proliferative responses are observed, particularly with age.

    Purpose of the Study:

    • To investigate the underlying causes of immunodeficiency in Down syndrome.
    • To explore the role of the thymus and thymic hormones in T-lymphocyte differentiation in DS.
    • To identify potential defects in thymic epithelial cells contributing to immune dysfunction.

    Main Methods:

    • Analysis of circulating T-lymphocyte percentages.

    Related Experiment Videos

  • Assessment of lymphocyte proliferative response to mitogens.
  • Evaluation of thymus morphology and serum thymic hormone levels.
  • Investigation of thymic epithelial cell function.

    • Main Results:

    • Subjects with DS show low T-lymphocyte percentages from birth.
    • Lymphocyte response to mitogens declines significantly after the first decade of life.
    • The thymus in DS subjects is morphologically abnormal, with low serum thymic hormone levels detected.
    • Evidence suggests impaired T-lymphocyte maturation in DS.

    Conclusions:

    • The immunodeficiency in Down syndrome is likely linked to impaired T-lymphocyte maturation.
    • A primary defect in thymic epithelial cells, affecting hormone synthesis or secretion, is proposed.
    • This defect may hinder the necessary differentiation of T-lymphocytes, leading to immune dysfunction in DS.