Activated phosphoinositide 3-kinase delta syndrome misdiagnosed as anti-neutrophil cytoplasmic antibody-associated vasculitis: a case report
Xiaojing Zhang, Jingjing Wang, Kun Zhu, Yanyan Jin, Haidong Fu, Jianhua Mao
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.
Topics & Concepts
MedicineVasculitisAntibodyImmunologyAnti-neutrophil cytoplasmic antibodyPathologyDiseaseImmunodeficiency and Autoimmune DisordersBlood disorders and treatmentsPlatelet Disorders and Treatments