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<p>Chronic granulomatous disease (CGD) is a rare inborn error of immunity (IEI) characterized by a defective respiratory burst in phagocytes and defective clearance of phagocytosed microorganisms. CGD is caused by a defect of the enzyme NADPH oxidase, resulting in severe and life-threatening infections in affected children. The genetically heterogeneous X-linked recessive form of CGD (XL-CGD) is caused by mutations in the <i>CYBB</i> gene. XL-CGD is typically diagnosed early in life, usually before the age of 3 years. The present report describes a boy aged 9 years and 11 months who presented with oral ulcers, cutaneous lesions, and uveitis. Whole-exome sequencing (WES) detected a mosaic, pathogenic nonsense variant (p.Arg157X) in <i>CYBB</i>. This pathogenic variant was present in ~ 60% of peripheral leukocytes in this patient, a percentage sufficient to result in defective production of reactive oxygen species (ROS), but not life-threatening infections, including BCG lymphadenitis following BCG vaccination. This study describes a somatic mosaicism mutation in the <i>CYBB</i> gene that can cause atypical CGD with inflammatory symptoms.</p>

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Somatic mosaicism of CYBB causing atypical CGD with inflammatory symptoms

  • 期刊论文

  • 发表日期：

    2025年12月18日

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  • Zhijuan Kang,
  • Xinying Qiu,
  • Yixing Ma,
  • Liang Zhang

摘要

Chronic granulomatous disease (CGD) is a rare inborn error of immunity (IEI) characterized by a defective respiratory burst in phagocytes and defective clearance of phagocytosed microorganisms. CGD is caused by a defect of the enzyme NADPH oxidase, resulting in severe and life-threatening infections in affected children. The genetically heterogeneous X-linked recessive form of CGD (XL-CGD) is caused by mutations in the CYBB gene. XL-CGD is typically diagnosed early in life, usually before the age of 3 years. The present report describes a boy aged 9 years and 11 months who presented with oral ulcers, cutaneous lesions, and uveitis. Whole-exome sequencing (WES) detected a mosaic, pathogenic nonsense variant (p.Arg157X) in CYBB. This pathogenic variant was present in ~ 60% of peripheral leukocytes in this patient, a percentage sufficient to result in defective production of reactive oxygen species (ROS), but not life-threatening infections, including BCG lymphadenitis following BCG vaccination. This study describes a somatic mosaicism mutation in the CYBB gene that can cause atypical CGD with inflammatory symptoms.