1109 Ataxia-telangiectasia: Immunologic profile and clinical outcome

Sunday, 7 December 2014
Exhibition Hall-Poster Area (Sul America)

Clarissa De Lima Honório Dumas, MD , Hospital De Base Do Distrito Federal, Brazil

Hermínio De Paula Ramos Netto, MD , Hospital De Base Do Distrito Federal, Brazil

Vanessa Silva Pereira Campos, MD , Hospital De Base Do Distrito Federal, Brazil

Luciana Lilian Dias Pereira, MD , Hospital De Base Do Distrito Federal, Brazil

Cláudia França Cavalcante Valente, MD , Hospital De Base Do Distrito Federal, Brazil

Fabiola Scancetti Tavares, MD , Asbai, Brazil

Background:

Evaluate the immunologic profile and clinical outcome of Ataxia-Telangiectasia (AT) patients followed on a immunology service of a health unity in Brasilia.

Methods:

This is a retrospective study and the informations were retrieved from the patients medical records.

Results:

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).

Conclusions:

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.