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

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

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 m...

Full description

Saved in:
Bibliographic Details
Main Authors: Maria Pia Esposto, Nizar Mahlaoui, Hassan Abolhassani, Koen Van Aerde, Simone Cesaro, Anita Chandra, Stephan Ehl, Sven Kracker, Felipe Suarez, Vincent Barlogis, Alice Parisi, Maria Elena Maccari, Matteo Chinello
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-04-01
Series:Frontiers in Immunology
Subjects:
activated PI3-kinase-δ syndrome
ovarian cancer
ovarian malignancies
IEI
inborn errors of immunity
female
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2025.1572194/full
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1664-3224

Similar Items