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Case Report: Activated Pi3-Kinase-Δ Syndrome and Ovarian Malignancies: A Case Series From the European Esid-Apds Registry Publisher Pubmed



Esposto MP1 ; Mahlaoui N2, 3 ; Abolhassani H4, 5 ; Van Aerde K6 ; Cesaro S1 ; Chandra A7, 8 ; Ehl S9 ; Kracker S10 ; Suarez F11, 12 ; Barlogis V13, 14 ; Parisi A16 ; Maccari ME9, 17 ; Chinello M1
Authors

Source: Frontiers in Immunology Published:2025


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. Copyright © 2025 Esposto, Mahlaoui, Abolhassani, Van Aerde, Cesaro, Chandra, Ehl, Kracker, Suarez, Barlogis, Parisi, Maccari and Chinello.
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