Immunodeficiency

At postmortem examination, virtually every AT homozygote has had a small embryonic-like thymus. No single uniform immunological abnormality has been found in AT patients. Indeed, even affected siblings often have different degrees of immunodeficiency. IgA and IgG2 deficiencies have been described in 60% and 80% of patients, respectively. Occasional AT patients have hyper-IgM, with hyperviscosity of blood and splenomegaly. T cell levels are normal to slightly reduced in AT patients. A suggestion that a y8 T cell subset is increased in AT patients has not been generally confirmed. CD4+/CD45RA" (naive) T cells are decreased in some patients. Responses to mitogens, antigens and allogeneic cells are usually slightly reduced, although a few patients have profound deficiencies of T cell responses. T cells show abnormally fast capping of FITC-labelled con-

canavalin A. Natural killer (NK) cell activity and NK cell levels have been described as normal, decreased, or increased in various studies. Some of these discrepancies may reflect transient immunological changes during infections. Unlike all other immunodeficiency symptoms, opportunistic infections are not seen in AT patients.

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