Activated phosphoinositide 3-kinase delta syndrome misdiagnosed as anti-neutrophil cytoplasmic antibody-associated vasculitis: a case report.

活化磷酸肌醇 3 激酶 δ 综合征误诊为抗中性粒细胞胞浆抗体相关性血管炎 1 例.

• 影响指数: 1.573
• 发表时间: May 2021
• 来源期刊: J Int Med Res
• DOI: 10.1177/03000605211013222
• PMID: 34039074
• 文章类型: Case Reports
• 中科院分区: Q4
• 方向: 医学
• 作者列表: Zhang X,Wang J,Zhu K,Jin Y,Fu H,Mao J

关键词: Case report; E525G; PIK3CD; activated phosphoinositide 3-kinase delta syndrome; anti-neutrophil cytoplasmic antibody-associated vasculitis; rapamycin

Mesh: Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis / diagnosis genetics; Child, Preschool; Class I Phosphatidylinositol 3-Kinases; Diagnostic Errors; Humans; Male; Phosphatidylinositol 3-Kinase; Phosphatidylinositol 3-Kinases

Abstract

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.

摘要

激活的磷酸肌醇3激酶δ综合征（APDS）是一种主要由PIK3CD突变引起的先天性免疫组合错误。我们在此描述了一名4岁的中国男孩，他因复发性肺炎和持续性血尿而入院，并表现出多系统受累和抗中性粒细胞胞浆抗体（ANCA）阳性。他最初被诊断为ANCA相关性血管炎。然而,基因检测显示c.1574A>GPIK3CD突变，导致APDS1的诊断。