Case Report: First report of a novel homozygous nonsense mutation in the CYBA gene causing chronic granulomatous disease
ObjectiveTo investigate the etiology of recurrent severe pneumonia and pleural effusion in a pediatric patient through pathogenic gene testing and bioinformatics analysis.MethodsClinical characteristics and laboratory findings were retrospectively reviewed. Peripheral blood samples were collected fr...
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| 主要な著者: | , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Frontiers Media S.A.
2026-03-01
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| シリーズ: | Frontiers in Immunology |
| 主題: | |
| オンライン･アクセス: | https://www.frontiersin.org/articles/10.3389/fimmu.2026.1744743/full |
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