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Ataxia-telangiectasia: immunologic profile and clinical outcome


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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Correspondence to Clarissa De Lima Honório Dumas.

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This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.

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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).

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