Activated PI3K-δ syndrome presenting with cervical lymphadenopathy in a pediatric patient: a case report and review of the literature.

ABSTRACT:

Background

Activated phosphoinositide 3-kinase delta syndrome (APDS) is a primary immunodeficiency caused by gain-of-function mutations in the PIK3CD gene, leading to dysregulated immune responses. Clinical manifestations include recurrent infections, lymphoproliferation, and increased risk of malignancies. Due to its rarity and variable presentation, APDS is often misdiagnosed or diagnosed late.

Case presentation

We report a case of a 12-year-old girl presenting with persistent cervical lymphadenopathy. Imaging studies revealed extensive lymph node involvement and splenomegaly. PET-CT raised suspicion for lymphoma. Histopathology of the excised lymph node demonstrated Epstein-Barr virus (EBV) latent infection Type III, while whole exome sequencing identified a pathogenic PI

SUBMITTER: Huang Z 

PROVIDER: S-EPMC12463851 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature