Frontiers in Immunology (Apr 2025)
Case Report: Activated PI3-kinase-δ syndrome and ovarian malignancies: a case series from the European ESID-APDS registry
- Maria Pia Esposto,
- Nizar Mahlaoui,
- Nizar Mahlaoui,
- Hassan Abolhassani,
- Hassan Abolhassani,
- Koen Van Aerde,
- Simone Cesaro,
- Anita Chandra,
- Anita Chandra,
- Stephan Ehl,
- Sven Kracker,
- Felipe Suarez,
- Felipe Suarez,
- Vincent Barlogis,
- Vincent Barlogis,
- Vincent Barlogis,
- Alice Parisi,
- Maria Elena Maccari,
- Maria Elena Maccari,
- Matteo Chinello
Affiliations
- Maria Pia Esposto
- Pediatric Hematology Oncology, Department of Mother and Child, Azienda Ospedaliera Universitaria Integrata Verona, Verona, Italy
- Nizar Mahlaoui
- Pediatric Immuno-Haematology and Rheumatology Unit, Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France
- Nizar Mahlaoui
- French National Reference Center for Primary Immune Deficiencies (CEREDIH), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France
- Hassan Abolhassani
- Division of Immunology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden
- Hassan Abolhassani
- Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
- Koen Van Aerde
- Department of pediatric infectious disease and immunology, Amalia Children’s Hospital, Radboudumc, Nijmegen, Netherlands
- Simone Cesaro
- Pediatric Hematology Oncology, Department of Mother and Child, Azienda Ospedaliera Universitaria Integrata Verona, Verona, Italy
- Anita Chandra
- Department of Clinical Immunology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom
- Anita Chandra
- Department of Medicine, University of Cambridge, Cambridge, United Kingdom
- Stephan Ehl
- Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
- Sven Kracker
- 0Laboratory of Lymphocyte Activation and Susceptibility to Epstein Barr Virus (EBV) infection, Imagine Institute, INSERM UMR 1163, Université Paris Cité, Paris, France
- Felipe Suarez
- 1Université Paris Cité, Inserm U-1163, Institut Imagine, Laboratoire of Hematological Disorders, Paris, France
- Felipe Suarez
- 2Service d’Hématologie Adulte and Centre de référence des déficits immunitaires héréditaires (CEREDIH), AP-HP, Hôpital Necker-Enfants Malades, Paris, France
- Vincent Barlogis
- 3Department of Pediatric Hematology, Immunology and Oncology, APHM, Hôpital de la Timone Enfants, Marseille, France
- Vincent Barlogis
- 4CEReSS Research Unit EA 3279 and Department of Public Health, Aix Marseille University, School of Medicine, Marseille, France
- Vincent Barlogis
- 5Aix Marseille University, School of Medicine, Marseille, France
- Alice Parisi
- 6Department of Pathological Anatomy, Azienda Ospedaliera Universitaria Integrata Verona, Verona, Italy
- Maria Elena Maccari
- Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
- Maria Elena Maccari
- 7Department of Pediatric Hematology, Oncology and Stem Cell Transplantation, Children’s Hospital, Medical Center – University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
- Matteo Chinello
- Pediatric Hematology Oncology, Department of Mother and Child, Azienda Ospedaliera Universitaria Integrata Verona, Verona, Italy
- DOI
- https://doi.org/10.3389/fimmu.2025.1572194
- Journal volume & issue
-
Vol. 16
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.
Keywords
- activated PI3-kinase-δ syndrome
- ovarian cancer
- ovarian malignancies
- IEI
- inborn errors of immunity
- female