Chronic Granulomatous Disease (CGD) is a defect of respiratory burst characterized by dysfunction of phagocytes to produce reactive oxygen species. The cause lies in a functional deterioration of the NADPH enzyme complex.
We aimed to report the first cases of CGD in indigenous people from Mexico as well as describe the new pathogenic variants affecting the NCF2 gene they live with. Additionally, it was to highlight the importance of not vaccinating children with CGD with the BCG vaccine due to high morbidity and mortality.
Patient I. 2-year-old male having been vaccinated with BCG at birth and with a history of gastroenteritis due to Salmonella at 10 months of age. He was admitted to the emergency room with gastroenteritis and fever and during his medical examination a right axillary adenopathy was found, a Mantoux test was performed which showed a positive result. Serratia marcescens was isolated in bronchial secretions and the CT scan showed images that suggested fungal infection. Antifungal treatment was initiated with successful outcomes. Patient II. 20-months old male having been vaccinated with BCG at birth. At 10 months old he had an adverse reaction to the BCG vaccine, a Mantoux test was performed which showed a positive result and the CT scan showed images of apical consolidation. Positive endobronchial lesions were confirmed by bronchoscopy. He also developed septic arthritis in the knee due to mycobacteria confirmed by PCR. The DHR test revealed a defect in H2O2 production and the evaluation of NADPH complex subunits revealed a p67phox deficiency in both patients. The genetic testing showed new pathogenic variants in the NCF2 gene.
CGD is underdiagnosed in Mexico and should be suspected in children who have an adverse reaction to the BCG vaccine, or who have severe infections unresponsive to standard treatment caused by both opportunistic and non-opportunistic agents.