Clinical analysis and follow up study of chronic granulomatous disease with neonatal onset - Takeaways - MDSpire

Clinical analysis and follow up study of chronic granulomatous disease with neonatal onset

  • By

  • Dongwei Zhang

  • Xuehua Xu

  • Huifeng Fan

  • Gan Zhou

  • Wenyan Li

  • Diyuan Yang

  • Peiqiong Wu

  • Gen Lu

  • July 9, 2026

  • 0 min

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  • 1

    The study analyzed nine male patients with neonatal-onset chronic granulomatous disease (CGD) diagnosed between January 2018 and September 2024.

  • 2

    The median age at onset for CGD patients was 20 days, with pneumonia being the most common clinical manifestation observed in 88.9% of cases.

  • 3

    All patients had hemizygous variants in the CYBB gene, which is associated with severe clinical manifestations of CGD.

  • 4

    Three patients died during initial hospitalization due to disease progression, while two achieved complete remission after hematopoietic stem cell transplantation.

  • 5

    Aspergillus species were identified as the most common pathogens in these neonatal-onset CGD patients, highlighting their vulnerability to severe infections.

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