Caracterização clínica, imunológica e molecular de pacientes portadores de doença granulomatosa crônica atendidos no Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

Objectives: Evaluate the clinical and immunological features of a group of pediatric patients with chronic granulomatous disease (CGD). Methods: Medical charts of 9 CGD patients were reviewed from march 2013 to june 2015 from IMIP Clinical Immunology Department. Neutrophil oxidative burst evaluated by flow cytometry using the dihydrorhodamine 123 (DHR) assay; and DNA sequencing (2 patients) for mutation analysis data, were done. The research followed all rules of National Health Council for researches with human beings. Results: 6 patients were male and 3 were female. The average age at diagnosis was 5,8 years. The most common infections were pneumonia (7), abscesses (3) and BCGite (3). Colitis was observed in 4 patients. The most common etiological agents were Staphylococcus aureus (5), Aspergillus (3) and Klebsiella (2). Genetic sequencing was performed in two patients and detected the pathogenic mutation c.1162delG, p.D388fs in CYBB gene. Bone marrow transplant was performed in two patients. All patients received antifungal prophylaxis and antimicrobial. Conclusions: These are preliminary results from the evaluation of group CGD patients. Pneumonia and abscesses were the warning sings for the diagnosis, besides the ocurrence of BCGite. DNA sequencing was performed in two patients, which demonstrated CYBB mutations. Mutation analysis is ongoing for the remaining patients.