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Ataxia-telangiectasia in children
Last reviewed: 07.07.2025
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Ataxia-telangiectasia may vary significantly from child to child. Progressive cerebellar ataxia and telangiectasia are present in all children, and the "café au lait" pattern on the skin is common. The susceptibility to infections ranges from very pronounced to very moderate. The incidence of malignant neoplasms, mainly tumors of the lymphoid system, is very high.
[ Pathogenesis
Characteristic immunological changes in patients with ataxia-telangiectasia are disorders of cellular immunity in the form of a decrease in the number of T-lymphocytes, inversion of the CD4+/CD8+ ratio, mainly due to a decrease in CD4+ cells, and functional activity of T-cells. In terms of serum immunoglobulin concentrations, the most characteristic changes are a decrease or absence of IgA, IgG2, IgG4 and IgE, less often are detected immunoglobulin concentrations close to normal or disimmunoglobulinemia in the form of a sharp decrease in IgA, IgG, IgE and a significant increase in IgM. Characteristically, there is a violation of antibody formation in response to polysaccharide and protein antigens.
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Treatment
There are no treatment methods for ataxia-telangiectasia developed to date. Patients require palliative therapy for neurological disorders. In case of detection of serious immunological changes and/or chronic or recurrent bacterial infections, antibacterial therapy is indicated (the duration is determined by the severity of the immunodeficiency and infection), replacement therapy with intravenous immunoglobulin, and, if indicated, antifungal and antiviral therapy.
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