Immunologic characteristics of Down's syndrome

M. Eric Gershwin, F. M. Crinella, J. J. Castles, J. K T Trent

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31 Scopus citations


Forty-six unrelated patients with Down's syndrome were examined for: HLA-A and B antigens; presence of Australia antigen; serum IgG, IgM, IgA, IgD, and IgE concentrations; percentages of peripheral blood E and EAC rosette forming cells and monocytes; and the responsiveness of lymphocytes to mitogen stimulation. Patients with Down's syndrome had similar frequency of HLA alleles as an agematched control population. However, those patients with Down's syndrome who possess the allele, HLA-B8, had a reduction of circulating T cells. Additionally, the frequency of cardiac anomalies was increased in Down's syndrome patients bearing the allele, HLA-A2. Serum levels of IgA were significantly reduced in patients with Down's syndrome whereas levels of IgG were elevated. However, when the mean cumulative percentage of each immunoglobulin class was determined, it was found that levels of both IgA and IgM were statistically reduced, compared to a normal control panel, whereas the mean cumulative percentage of IgG was normal. The percentage of E rosette forming cells was lower in patients with Down's syndrome whereas the percentage of EAC rosettes and monocytes was increased. Lymphocyte responsiveness to the T cell mitogens, Concanavalin A and Phytohaemagglutinin, and the predominantly B cell mitogen, Pokeweed, was diminished in the Down's group compared to the control panel. We conclude that patients with Down's syndrome have major quantitative abnormalities of immune function and that such abnormalities to not correlate with the presence of Australia antigen. The mechanism for these alterations is unclear, but may be responsible for the increased risk of infections, autoantibody formation, and leukaemia in patients with this syndrome.

Original languageEnglish (US)
Pages (from-to)237-249
Number of pages13
JournalJournal of Mental Deficiency Research
Issue number4
StatePublished - 1977

ASJC Scopus subject areas

  • Psychiatry and Mental health


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