Background Patients with chronic granulomatous disease (CGD) develop severe infections, including Bacillus Calmette-Guérin (BCG). Although the autosomal recessive CGD (AR-CGD) patients should hypothetically develop relatively fewer infections compared to the X-linked CGD (X-CGD) patients due to more residual reactive oxygen intermediates, the impacts of BCG vaccination on AR-CGD and X-CGD patients are unclear. Herein, we demonstrated the clinical features of BCG infections, treatments, and genetic factors in CGD patients after BCG vaccination under the Japanese immunization program. Methods We collected data retrospectively from 43 patients with CGD and assessed their history of initial infection, age at diagnosis of CGD, BCG vaccination history, clinical course, treatment for BCG infections, and genetic mutations associated with CGD. Results Fourteen CGD patients avoided BCG vaccination because of other preceding infections and family history. Of 29 patients with CGD who received BCG vaccination, 20 patients developed BCG infections. Although the age at onset of initial infection in X-CGD patients was significantly younger than that in AR-CGD patients (P<0.01), the onset and frequency of BCG infections were similar in X-CGD and AR-CGD patients. In X-CGD patients, BCG infections equally developed in the patients carrying missense, insertion, deletion, nonsense, and splice mutations of CYBB. All CGD patients with BCG infections were successfully treated with anti-tuberculous drugs. Conclusions Although X-CGD patients develop severe infections at a younger age than AR-CGD patients, our data suggested that BCG infections develop at high frequency in both AR-CGD and X-CGD patients, regardless of genotype and mutant forms.

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A previously healthy 9-month-old girl presented with dyspnea and wheezing that progressed for a week. There was no significant medical or family history of severe infections. The living environment around the patient was hygienic and there were no prevalent infections. Physical findings revealed only wheezing and no cervical lymphadenopathy or hepatosplenomegaly. Although the patient's respiratory rate was 30-40 breaths/min with SpO 2 97%, she required oxygen temporarily because of a leftright difference in breathing. Immunochromatography tests for respiratory syncytial virus and human metapneumovirus from nasal swabs were negative. The poor response to initial treatment with an aerosolized bronchodilator and oral corticosteroid led physicians to suspect diseases other than bronchial asthma. Chest X-ray demonstrated atelectasis in the right upper lobe with hyperinflation of the right, middle, and lower lobes, and a mediastinal shift to the left, suggesting foreign body aspiration (Fig. 1). Computed tomography and bronchoscopy revealed bronchial stenosis from endobronchial masses in the left main bronchus and right bronchus intermedius, and subcarinal and paratracheal lymphadenopathy, suggesting a possible bronchial endothelial tumor, lymphoma, sarcoidosis, and lymphadenitis (Fig. 2). Histopathological examination of a paratracheal lymph node collected by open chest biopsy revealed granulomas. Although initial polymerase chain reaction testing of the lymph node for Mycobacterium was negative, M. avium subsp. hominissuis was identified in cultures of sputum collected by bronchoscopy and the lymph node at 4 weeks, finally resulting in a diagnosis of non-tuberculous mycobacterial (NTM) infection. 1 Systemic examinations, including gallium scintigraphy, head magnetic resonance imaging, and ophthalmological examination revealed no lesions other than subcarinal and mediastinal lymphadenopathies. In the peripheral blood examination, white blood cells (including neutrophils and lymphocytes), red blood cells, C-reactive protein, IgG, IgA, IgM, and