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

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

JOURNAL=Frontiers in Immunology

VOLUME=Volume 16 - 2025

YEAR=2025

URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2025.1572194

DOI=10.3389/fimmu.2025.1572194

ISSN=1664-3224

ABSTRACT=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.