Objective To investigate the clinical features of children with chronic granulomatous disease (CGD) caused by new mutations in the CYBB gene. Methods The clinical data of 3 children with CGD caused by new mutations in the CYBB gene diagnosed in Maternal and Child Health Care of Guangxi Zhuang Autonomous Region from November 2020 to December 2021 were summarized and analyzed. Results All 3 children were boys, with the onset of CGD in the neonatal period, needing ventilator-assisted ventilation on admission and manifestating fever, cough, shortness of breath, and dyspnea. Their blood routine test showed an elevated white blood cells count ［(17.30~30.51)×109/L］, most of which was neutrophil, and an significantly increased C-reactive protein level ［(75.16~102.56)mg/L］. The 3 children were infected with Aspergillus and had multiple nodular opacities and lumpy high-density opacities on the pulmonary CT. They all had CYBB gene mutations, whose mothers were carriers, among which case 1 had CYBB gene c.984_993delGTGCCCAAAG, case 2 had CYBB gene c.1713A>C, and case 3 had CYBB gene c.1462-1G>A. According to the variant interpretation guidelines developed by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, the 3 mutations were pathogenic and had not been reported in the ClinVar database or dbSNP database. The clinical outcome was 1 child died and 2 children survived. Conclusion c.984_993delGTGCCCAAAG, c.1713A>C, and c.1462-1G>A are new mutation sites of the CYBB gene, which can lead to CGD. The neonatal-onset CGD is severe and the clinical outcome is poor.

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