114 cases of chronic granulomatous disease in mainland China

Background Chronic granulomatous disease (CGD) is a rare inherited disorder, with phagocytes failing to produce antimicrobial superoxide due to deficient NADPH oxidase activity. Mutations in the gene encoding CYBB are responsible for the majority of the CGD cases.In this study, we described the clinical and molecular features of 114 suspected CGD patients in mainland China. Methods During 2013 to 2018, we enrolled 114 cases diagnosed with CGD in Children’s Hospital of Chongqing Medical University. Patients’ clinical data were collected, neutrophil function was detected, and the genotype of patients and fetal cells in the carrier mother’s amniotic fluid were detected. Results 114 CGD patients (109 male, 5 female), from 20 provinces of mainland China. The mean age at onset was 4 months, and the mean age of diagnosis was 23.1 months. To date, 33 patients have died, 27 patients have hemopoietic stem cell transplantation, and 12 patients were lost. For all patients, the types of genetic mutations include CYBB (95, 83.3%), CYBA (8), NCF1 (3) and NCF2 (2), and 6 cases have not been found yet. The type of infection symptoms in this cohort included recurrent fever (100%), pneumonia (92. 1%), tuberculosis (58.8%), BCG disease (55. 1%; 54/98), repeated diarrhea (45.6%) and others. In addition, we prenatally diagnosed 8 XL-CGD, 6 healthy fetuses and 1 carrier (a XL-CGD female infant patient with X-chromosome inactivated). Conclusions Children with recurrent bacterial and fungal infection not easy to cure, with higher inflammatory markers, with or without BCG disease and family history, should be alert to CGD. BCG disease and tuberculosis is still a very severe problem in CGD patients in China. Early diagnosis and prophylaxis treatment can prolong the survival time of CGD patients. DHR-1,2,3 test and NBT test can quickly aid in the diagnosis of CGD. Molecular analysis is an important tool for identifying diagnosis, prenatal diagnosis of CGD.