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Ataxia-telangiectasia in children
Last reviewed: 23.04.2024
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Ataxia-telangiectasia can differ significantly in different children. Progressive cerebellar ataxia and telangiectasia are present in all, often there is a "coffee with milk" on the skin. Inclination to infections varies from very pronounced to very mild. Very high incidence of malignant tumors, mainly tumors of the lymphoid system.
[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, an inversion of the CD4 + / CD8 + ratio, mainly due to the decrease in CD4 + cells, and the functional activity of T cells. On the side of serum immunoglobulin concentrations, the most characteristic changes are the decrease or absence of IgA, IgG2, IgG4 and IgE, and immunoglobulin concentrations close to normal or asymmetoglobulinemia are seldom detected as a sharp decrease in IgA, IgG, IgE and a significant increase in IgM. Characterized by a violation of antibody formation in response to polysaccharide and protein antigens.
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Treatment
Methods of ataxia-telangiectasia have not been developed to date. Patients need palliative therapy for neurological disorders. In case of detection of serious immunological changes and / or chronic or recurrent bacterial infections, antibacterial therapy is indicated (duration is determined by the severity of immunodeficiency and infection), substitution therapy with intravenous immunoglobulin, according to indications - antifungal and antiviral therapy.