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Functional study of b lymphocytes: maturation, activation and cytokines production in patients diagnosed with ataxia-telangiectasia

Grant number: 13/00786-4
Support type:Regular Research Grants
Duration: June 01, 2013 - May 31, 2015
Field of knowledge:Health Sciences - Medicine
Principal researcher:Beatriz Tavares Costa Carvalho
Grantee:Beatriz Tavares Costa Carvalho
Home Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
Assoc. researchers: Camila Teles Machado Pereira ; Daniélli Christinni Bichuete Silva ; Milena Karina Coló Brunialti ; Reinaldo Salomão


Ataxia-telangiectasia (AT) is a rare, degenerative and autosomal recessive disease that leads to progressive ataxia telangiectasia, immunodeficiency, chromosomal instability, radiosensitivity, sinopulmonary infections and neoplasms. It is caused by a mutation in the ATM gene (ataxia telangiectasia mutated), encoded on chromosome 11q22-23. The immune system dysfunction in AT can be both humoral and cellular. The production of immunoglobulins can be modified, with IgA deficiency being the most prevalent alteration, besides elevated IgM and lack of response to polysaccharide antigens. The goals of this study are: 1. Study the number of B cells (naïve, memory, transitional and immature B cells) in patients with AT 2. To investigate the expression of CD40 on the surface of B lymphocytes and their binding with CD40L; 3. Check the production of IL-6, IL21 and IFNg by B lymphocytes after specific stimulation with tetanus toxoid; 4. Verify the proportion of regulatory B cells (CD19+CD24+CD38+) 5. Correlate the subpopulations of B cells with immunoglobulins' levels and antibody response to polysaccharide antigen; 6. Compare the quantitative subpopulations of B lymphocytes with healthy controls matched for gender and age. Patients diagnosed with AT according to the PAGID-ESID criteria and of all ages will be invited to participate of the study (approximately 40). Blood sample will be obtained for evaluation of B cells' subpopulations by flow cytometry and for evaluation of cytokine production after B cells' stimulation with PWM. (AU)

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Scientific publications
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
PEREIRA, C. T. M.; BICHUETTI-SILVA, D. C.; DA MOTA, N. V. F.; SALOMAO, R.; BRUNIALTI, M. K. C.; COSTA-CARVALHO, B. T. B-cell subsets imbalance and reduced expression of CD40 in ataxia-telangiectasia patients. ALLERGOLOGIA ET IMMUNOPATHOLOGIA, v. 46, n. 5, p. 438-446, SEP-OCT 2018. Web of Science Citations: 2.

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