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

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

in 1-Phosphatidylinositol 3-kinase / Abdomen / activated PI3-kinase-δ syndrome / Age / Biopsy / Chemotherapy / Class I Phosphatidylinositol 3-Kinases - genetics / Disease prevention / Ear diseases / Europe / Family medical history / Female / Humans / Hyperplasia / IEI / Immune system / Immunodeficiency / Immunoglobulins / Immunology / inborn errors of immunity / Infections / Intestinal obstruction / Kinases / Lesions / Life Sciences / Lymphocytes / Lymphoma / Magnetic resonance imaging / Malignancy / Mutation / ovarian cancer / ovarian malignancies / Ovarian Neoplasms - diagnosis / Ovarian Neoplasms - etiology / Ovarian Neoplasms - genetics / Ovaries / Parents & parenting / Patients / Primary Immunodeficiency Diseases - complications / Primary Immunodeficiency Diseases - genetics / Registries / Surgery / Tomography / Ultrasonic imaging

2025

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

2025

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

2025

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Journal Article

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

Barlogis, Vincent,

Mahlaoui, Nizar,

Maccari, Maria Elena,

Ehl, Stephan,

Kracker, Sven,

Parisi, Alice,

Abolhassani, Hassan,

Esposto, Maria Pia,

Suarez, Felipe,

Van Aerde, Koen,

Cesaro, Simone,

Chinello, Matteo,

Chandra, Anita

2025

Overview

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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Publisher

Frontiers Media SA,Frontiers,Frontiers Media S.A

Subject

1-Phosphatidylinositol 3-kinase

/ Abdomen

/ activated PI3-kinase-δ syndrome

/ Age

/ Biopsy

/ Chemotherapy

/ Class I Phosphatidylinositol 3-Kinases - genetics