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 Publisher Pubmed

Esposto MP¹ ; Mahlaoui N^{2, 3} ; Abolhassani H^{4, 5} ; Van Aerde K⁶ ; Cesaro S¹ ; Chandra A^{7, 8} ; Ehl S⁹ ; Kracker S¹⁰ ; Suarez F^{11, 12} ; Barlogis V^{13, 14} ; Parisi A¹⁶ ; Maccari ME^{9, 17} ; Chinello M¹

Show Affiliations

1. Pediatric Hematology Oncology, Department of Mother and Child, Azienda Ospedaliera Universitaria Integrata Verona, Verona, Italy
2. Pediatric Immuno-Haematology and Rheumatology Unit, Necker Enfants Malades University Hospital, Assistance Publique-Hopitaux de Paris (AP-HP), Paris, France
3. French National Reference Center for Primary Immune Deficiencies (CEREDIH), Necker Enfants Malades University Hospital, Assistance Publique-Hopitaux de Paris (AP-HP), Paris, France
4. Division of Immunology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden
5. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
6. Department of pediatric infectious disease and immunology, Amalia Children’s Hospital, Radboudumc, Nijmegen, Netherlands
7. Department of Clinical Immunology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom
8. Department of Medicine, University of Cambridge, Cambridge, United Kingdom
9. Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
10. Laboratory of Lymphocyte Activation and Susceptibility to Epstein Barr Virus (EBV) infection, Imagine Institute, INSERM UMR 1163, Universite Paris Cite, Paris, France
11. Universite Paris Cite, Inserm U-1163, Institut Imagine, Laboratoire of Hematological Disorders, Paris, France
12. Service d’Hematologie Adulte and Centre de reference des deficits immunitaires hereditaires (CEREDIH), AP-HP, Hopital Necker-Enfants Malades, Paris, France
13. Department of Pediatric Hematology, Immunology and Oncology, APHM, Hopital de la Timone Enfants, Marseille, France
14. CEReSS Research Unit EA 3279, Department of Public Health, Aix Marseille University, School of Medicine, Marseille, France
15. Aix Marseille University, School of Medicine, Marseille, France
16. Department of Pathological Anatomy, Azienda Ospedaliera Universitaria Integrata Verona, Verona, Italy
17. Department of Pediatric Hematology, Oncology and Stem Cell Transplantation, Children’s Hospital, Medical Center – University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany

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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Style	Citing Format
MLA	Esposto MP, et al.. "Case Report: Activated Pi3-Kinase-Δ Syndrome and Ovarian Malignancies: A Case Series From the European Esid-Apds Registry." Frontiers in Immunology, vol. 16, no. , 2025, pp. -.
APA	Esposto MP, Mahlaoui N, Abolhassani H, Van Aerde K, Cesaro S, Chandra A, Ehl S, Kracker S, Suarez F, Barlogis V, Parisi A, Maccari ME, Chinello M (2025). Case Report: Activated Pi3-Kinase-Δ Syndrome and Ovarian Malignancies: A Case Series From the European Esid-Apds Registry. Frontiers in Immunology, 16(), -.
Chicago	Esposto MP, Mahlaoui N, Abolhassani H, Van Aerde K, Cesaro S, Chandra A, Ehl S, et al.. "Case Report: Activated Pi3-Kinase-Δ Syndrome and Ovarian Malignancies: A Case Series From the European Esid-Apds Registry." Frontiers in Immunology 16, no. (2025): -.
Harvard	Esposto MP et al. (2025) 'Case Report: Activated Pi3-Kinase-Δ Syndrome and Ovarian Malignancies: A Case Series From the European Esid-Apds Registry', Frontiers in Immunology, 16(), pp. -.
Vancouver	Esposto MP, Mahlaoui N, Abolhassani H, Van Aerde K, Cesaro S, Chandra A, et al.. Case Report: Activated Pi3-Kinase-Δ Syndrome and Ovarian Malignancies: A Case Series From the European Esid-Apds Registry. Frontiers in Immunology. 2025;16():-.
BibTex	@article{ author = {Esposto MP and Mahlaoui N and Abolhassani H and Van Aerde K and Cesaro S and Chandra A and Ehl S and Kracker S and Suarez F and Barlogis V and Parisi A and Maccari ME and Chinello M}, title = {Case Report: Activated Pi3-Kinase-Δ Syndrome and Ovarian Malignancies: A Case Series From the European Esid-Apds Registry}, journal = {Frontiers in Immunology}, volume = {16}, number = {}, pages = {-}, year = {2025} }
RIS	TY - JOUR AU - Esposto MP AU - Mahlaoui N AU - Abolhassani H AU - Van Aerde K AU - Cesaro S AU - Chandra A AU - Ehl S AU - Kracker S AU - Suarez F AU - Barlogis V AU - Parisi A AU - Maccari ME AU - Chinello M TI - Case Report: Activated Pi3-Kinase-Δ Syndrome and Ovarian Malignancies: A Case Series From the European Esid-Apds Registry JO - Frontiers in Immunology VL - 16 IS - SP - EP - PY - 2025 ER -

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