Frontiers in Immunology (Apr 2025)

Case Report: Activated PI3-kinase-δ syndrome and ovarian malignancies: a case series from the European ESID-APDS registry

  • Maria Pia Esposto,
  • Nizar Mahlaoui,
  • Nizar Mahlaoui,
  • Hassan Abolhassani,
  • Hassan Abolhassani,
  • Koen Van Aerde,
  • Simone Cesaro,
  • Anita Chandra,
  • Anita Chandra,
  • Stephan Ehl,
  • Sven Kracker,
  • Felipe Suarez,
  • Felipe Suarez,
  • Vincent Barlogis,
  • Vincent Barlogis,
  • Vincent Barlogis,
  • Alice Parisi,
  • Maria Elena Maccari,
  • Maria Elena Maccari,
  • Matteo Chinello

DOI
https://doi.org/10.3389/fimmu.2025.1572194
Journal volume & issue
Vol. 16

Abstract

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Activated phosphoinositide-3-kinase-delta (PI3Kδ) syndrome (APDS) is an autosomal dominant inborn error of immunity (IEI) characterized by combined immunodeficiency and immune dysregulation with increased risk for lymphoma and other non-lymphoid malignancies. We describe five patients with ovarian malignancies among 110 female APDS patients participating in the European Society for Immunodeficiencies (ESID) registry and identified three additional cases in the literature. These findings document a relevant predisposition to these non-hematological malignancies in APDS patients.

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