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Atypical Case of Chronic Granulomatous Disease: A Case Report

Background: Chronic Granulomatous Disease (CGD) is a heterogeneous clinical presentation immunodeficiency, whose origin can be autosomal recessive or X-linked. In this pathology there is a deficiency in the effector mechanisms of phagocytes.

Case study: A review of the patient's medical records was performed, as well as the currently available bibliography. The case report presented is of an 8-year-old male patient, who had a history of recurrent respiratory infections and ICU admissions since 3 years old, being diagnosed with atypical presentation of CGD at 5 years old, and managed with standard prophylactic treatment based on sulfamethoxazole-trimethoprim (SMX-TMP).

Conclusion: CGD has a wide range of symptoms, so treatment should be guided based on each patient. In the presented case, the patient is being treated with a prophylactic combination of Itraconazole and SMX-TMP. Besides, we are still awaiting judicial clearance by the Brazilian National Health System (SUS) for financial support for IFN-gamma (IFN-γ), which is recommended as prophylactic treatment.


Wilian Luan Pilatti Sant'Ana, Bruno Martini de Azevedo* and Ney Noronha Raffin

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