Evidence map›Paper›PMID 40370432›Full record

ArticleFrontiers in immunology2025

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

Maria Pia Esposto, Nizar Mahlaoui, Hassan Abolhassani, Koen Van Aerde, Simone Cesaro, Anita Chandra, Stephan Ehl, Sven Kracker, Felipe Suarez, Vincent Barlogis and 3 more

Abstract readCase Reports
In one paragraph

Article in Frontiers in immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Maria Pia EspostoPediatric Hematology Oncology, Department of Mother and Child, Azienda Ospedaliera Universitaria Integrata Verona, Verona, Italy.
Nizar MahlaouiPediatric Immuno-Haematology and Rheumatology Unit, Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
Hassan AbolhassaniDivision of Immunology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
Koen Van AerdeDepartment of pediatric infectious disease and immunology, Amalia Children's Hospital, Radboudumc, Nijmegen, Netherlands.
Simone CesaroPediatric Hematology Oncology, Department of Mother and Child, Azienda Ospedaliera Universitaria Integrata Verona, Verona, Italy.
Anita ChandraDepartment of Clinical Immunology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.
Stephan EhlInstitute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Sven KrackerLaboratory of Lymphocyte Activation and Susceptibility to Epstein Barr Virus (EBV) infection, Imagine Institute, INSERM UMR 1163, Université Paris Cité, Paris, France.
Felipe SuarezUniversité Paris Cité, Inserm U-1163, Institut Imagine, Laboratoire of Hematological Disorders, Paris, France.
Vincent BarlogisDepartment of Pediatric Hematology, Immunology and Oncology, APHM, Hôpital de la Timone Enfants, Marseille, France.
Alice ParisiDepartment of Pathological Anatomy, Azienda Ospedaliera Universitaria Integrata Verona, Verona, Italy.
Maria Elena MaccariInstitute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Matteo ChinelloPediatric Hematology Oncology, Department of Mother and Child, Azienda Ospedaliera Universitaria Integrata Verona, Verona, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Class I Phosphatidylinositol 3-KinasesOvarian NeoplasmsPrimary Immunodeficiency DiseasesEuropeFemaleHumansRegistriesClass I Phosphatidylinositol 3-Kinasesactivated PI3-kinase-δ syndromecancer predispositionfemaleIEIinborn errors of immunityovarian cancerovarian malignancies

Identifiers

PMID40370432
PMCPMC12075536

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.