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CASE REPORT article
Front. Immunol.
Sec. Primary Immunodeficiencies
Volume 16 - 2025 | doi: 10.3389/fimmu.2025.1572194
Activated PI3-kinase-δ syndrome and ovarian malignancies: a case series from the European ESID-APDS registry. Authors
Provisionally accepted
Maria Pia Esposto1
Nizar MAHLAOUI2
Hassan Abolhassani3,4
Koen Van Aerde5
Simone Cesaro1Anita Chandra6
Stephan R Ehl7
Sven Kracker8
Felipe Suarez9
Vincent Barlogis10Alice Parisi11
Maria Elena Maccari12
Matteo Chinello1,13*- 1Division of Pediatric Oncohaematology, Department of Pediatrics, University Hospital of Verona, Verona, Veneto, Italy
- 2Unité d'Hématologie Immunologie et Rhumatologie Pédiatriques, Hôpital Necker-Enfants Malades, Assistance Publique Hopitaux De Paris, Paris, France
- 3Department of Medical Biochemistry and Biophysics, Karolinska Institutet (KI), Stockholm, Stockholm, Sweden
- 4Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Alborz, Iran
- 5Department of Pediatric Infectious Diseases and Immunology, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, Netherlands
- 6Department of Medicine, School of Clinical Medicine, University of Cambridge, Cambridge, England, United Kingdom
- 7Institute for Immunodeficiency, Center for Chronic Immunodeficiency, University of Freiburg Medical Center, Freiburg, Germany
- 8Laboratoire des Réponses Inflammatoires et des Réseaux Transcriptomiques dans les Maladies, INSERM U1163 Institut Imagine, Paris, France
- 9INSERM U1163 Institut Imagine, Paris, Île-de-France, France
- 10Service d’Pédiatrie et oncologie pédiatrique, Hôpital de la Timone, Assistance Publique Hopitaux de Marseille, Marseille, Provence-Alpes-Côte d'Azur, France
- 11Section of Anatomy and Histology, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Veneto, Italy
- 12Department of Internal Medicine I Hematology, Oncology and Stem Cell Transplantation, Freiburg University Medical Center, Freiburg, Germany
- 13Integrated University Hospital Verona, Verona, Italy
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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 5 patients with ovarian malignancies among 110 female APDS patients participating in the European Society for Immunodeficiencies (ESID) registry and identified 3 additional cases in the literature. These findings document a relevant predisposition to these non-hematological malignancies in APDS patients.
Keywords: Activated PI3-kinase-δ syndrome, ovarian cancer, Ovarian malignancies, IEI, inborn errors of immunity, female, Cancer predisposition
Received: 06 Feb 2025; Accepted: 07 Apr 2025.
Copyright: © 2025 Esposto, MAHLAOUI, Abolhassani, Van Aerde, Cesaro, Chandra, Ehl, Kracker, Suarez, Barlogis, Parisi, Maccari and Chinello. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Matteo Chinello, Integrated University Hospital Verona, Verona, Italy
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