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

J Int Med Res. 2021 May;49(5):3000605211013222. doi: 10.1177/03000605211013222.

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.

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

Publication types

  • Case Reports

MeSH terms

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

Substances

  • Class I Phosphatidylinositol 3-Kinases
  • Phosphatidylinositol 3-Kinase