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Ataxia-telangiectasia: immunologic profile and clinical outcome
World Allergy Organization Journal volume 8, pageA203(2015)
Evaluate the immunologic profile and clinical outcome of Ataxia-Telangiectasia (AT) patients followed on a immunology service of a health unity in Brasilia.
This is a retrospective study and the informations were retrieved from the patients medical records.
In our service, a hundred and thirty patients with the diagnosis of a primary immunodeficiency are followed-up and from this sample we have four patients with AT. Acessing clinical history and the laboratory findings becomes clear that a large variability occurs concerning their immune system.
All subjects presented recurrent infections, especially sinopulmonary . In laboratory evaluation it was shown immunoglobulin A (IgA) deficiency, lymphopenia due to low lymphocyte T count and selective antibody deficiency with normal immunoglobulins levels. Some of these patients also require human immunoglobulin replacement and two of them evolved with lymphoid malignancy (Hodgkin and non-Hodgkin lymphoma).
This study demonstrates that clinical aspects and level of immunodeficiency has a large variation and that both cellular and humoral immunity might be affected. This presentation is the same one found in databases worldwide.
A multidisciplinary approach allows adequate control of infectious episodes and related comorbidities with a positive impact on their quality of life.
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Dumas, C.D.L.H., Tavares, F.S., Netto, H.D.P.R. et al. Ataxia-telangiectasia: immunologic profile and clinical outcome. World Allergy Organ J 8, A203 (2015). https://doi.org/10.1186/1939-4551-8-S1-A203