دورية أكاديمية
Activated phosphoinositide 3-kinase delta syndrome misdiagnosed as anti-neutrophil cytoplasmic antibody-associated vasculitis: a case report
| العنوان: | Activated phosphoinositide 3-kinase delta syndrome misdiagnosed as anti-neutrophil cytoplasmic antibody-associated vasculitis: a case report |
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| المؤلفون: | Xiaojing Zhang, Jingjing Wang, Kun Zhu, Yanyan Jin, Haidong Fu, Jianhua Mao |
| المصدر: | Journal of International Medical Research, Vol 49 (2021) |
| بيانات النشر: | SAGE Publishing, 2021. |
| سنة النشر: | 2021 |
| المجموعة: | LCC:Medicine (General) |
| مصطلحات موضوعية: | Medicine (General), R5-920 |
| الوصف: | Activated phosphoinositide 3-kinase delta syndrome (APDS) is a combined inborn error of immunity mainly caused by PIK3CD mutations. We herein describe a 4-year-old Chinese boy who was admitted for recurrent pneumonia and persistent hematuria and exhibited multisystem involvement and anti-neutrophil cytoplasmic antibody (ANCA) positivity. He was initially diagnosed with ANCA-associated vasculitis. However, genetic testing revealed a c.1574A>G PIK3CD mutation, resulting in a diagnosis of APDS1. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1473-2300 03000605 |
| العلاقة: | https://doaj.org/toc/1473-2300Test |
| DOI: | 10.1177/03000605211013222 |
| الوصول الحر: | https://doaj.org/article/61446e41434a41fd9035191ebd8b57b4Test |
| رقم الانضمام: | edsdoj.61446e41434a41fd9035191ebd8b57b4 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 14732300 03000605 |
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| DOI: | 10.1177/03000605211013222 |