Evidence map›Paper›PMID 41583441›Full record

Observational studyFrontiers in immunology2025

Activated PI3Kδ syndrome in inborn errors of immunity: diagnostic strategies and clinical challenges.

Selcen Bozkurt, Necmiye Ozturk, Melek Yorgun Altunbas, Salim Can, Razin Amirov, Ramin Mahmudov, Burkay Cagan Colak, Esra Karabiber, Manuela Baronio, Vassilios Lougaris and 5 more

Abstract readObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in Frontiers in immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

15 authors.

Selcen BozkurtMarmara University, Faculty of Medicine, Department of Pediatrics, Division of Allergy and Immunology, Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Immune Deficiency Research and Application Center, European Academy of Allergy and Clinical Immunology Marmara University Hospital Center of Excellence, Istanbul, Türkiye.
Necmiye OzturkMarmara University, Faculty of Medicine, Department of Pediatrics, Division of Allergy and Immunology, Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Immune Deficiency Research and Application Center, European Academy of Allergy and Clinical Immunology Marmara University Hospital Center of Excellence, Istanbul, Türkiye.
Melek Yorgun AltunbasMarmara University, Faculty of Medicine, Department of Pediatrics, Division of Allergy and Immunology, Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Immune Deficiency Research and Application Center, European Academy of Allergy and Clinical Immunology Marmara University Hospital Center of Excellence, Istanbul, Türkiye.
Salim CanMarmara University, Faculty of Medicine, Department of Pediatrics, Division of Allergy and Immunology, Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Immune Deficiency Research and Application Center, European Academy of Allergy and Clinical Immunology Marmara University Hospital Center of Excellence, Istanbul, Türkiye.
Razin AmirovMarmara University, Faculty of Medicine, Department of Pediatrics, Division of Allergy and Immunology, Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Immune Deficiency Research and Application Center, European Academy of Allergy and Clinical Immunology Marmara University Hospital Center of Excellence, Istanbul, Türkiye.
Ramin MahmudovMarmara University, Faculty of Medicine, Department of Pediatrics, Division of Allergy and Immunology, Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Immune Deficiency Research and Application Center, European Academy of Allergy and Clinical Immunology Marmara University Hospital Center of Excellence, Istanbul, Türkiye.
Burkay Cagan ColakMarmara University, Faculty of Medicine, Department of Pediatrics, Division of Allergy and Immunology, Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Immune Deficiency Research and Application Center, European Academy of Allergy and Clinical Immunology Marmara University Hospital Center of Excellence, Istanbul, Türkiye.
Esra KarabiberMarmara University, Faculty of Medicine, Department of Chest Diseases, Division of Adult Allergy and Immunology, Istanbul, Türkiye.
Manuela BaronioPediatrics Clinic and Institute for Molecular Medicine "A. Nocivelli", Department of Clinical and Experimental Sciences, University of Brescia, and Azienda Socio-Sanitaria Territoriale (ASST) Spedali Civili di Brescia, Brescia, Italy.
Vassilios LougarisPediatrics Clinic and Institute for Molecular Medicine "A. Nocivelli", Department of Clinical and Experimental Sciences, University of Brescia, and Azienda Socio-Sanitaria Territoriale (ASST) Spedali Civili di Brescia, Brescia, Italy.
Giulio TessarinPediatrics Clinic and Institute for Molecular Medicine "A. Nocivelli", Department of Clinical and Experimental Sciences, University of Brescia, and Azienda Socio-Sanitaria Territoriale (ASST) Spedali Civili di Brescia, Brescia, Italy.
Sevgi Bilgic-EltanMarmara University, Faculty of Medicine, Department of Pediatrics, Division of Allergy and Immunology, Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Immune Deficiency Research and Application Center, European Academy of Allergy and Clinical Immunology Marmara University Hospital Center of Excellence, Istanbul, Türkiye.
Ahmet OzenMarmara University, Faculty of Medicine, Department of Pediatrics, Division of Allergy and Immunology, Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Immune Deficiency Research and Application Center, European Academy of Allergy and Clinical Immunology Marmara University Hospital Center of Excellence, Istanbul, Türkiye.
Safa BarisMarmara University, Faculty of Medicine, Department of Pediatrics, Division of Allergy and Immunology, Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Immune Deficiency Research and Application Center, European Academy of Allergy and Clinical Immunology Marmara University Hospital Center of Excellence, Istanbul, Türkiye.
Elif Karakoc-AydinerMarmara University, Faculty of Medicine, Department of Pediatrics, Division of Allergy and Immunology, Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Immune Deficiency Research and Application Center, European Academy of Allergy and Clinical Immunology Marmara University Hospital Center of Excellence, Istanbul, Türkiye.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: This study aims to present in a large real-world cohort a diagnostic algorithm developed to facilitate the early recognition of Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS), a rare disease with targeted treatment options, and to provide clinicians with a practical roadmap for navigating diagnostic challenges. Methods: The study was conducted as a retroactive cross-sectional observational study. We reviewed the medical records of 6,458 pediatric and adult patients who were referred to our clinic between 2018 and 2025. A medical algorithm was generated based on major clinical and laboratory features of APDS. Next-generation sequencing analyses were performed on patients who were appropriate for further evaluation. Variant analysis using in silico predictors and S6 phosphorylation analysis in patients carrying previously undescribed variants were conducted accordingly. Results: In this cohort of 6,458 patients, the diagnostic algorithm identified 1,138 who met at least one major clinical or laboratory criterion. After excluding 7 with a prior APDS diagnosis and 573 with other inborn errors of immunity, genetic analysis was performed in 20 consenting patients under clinical follow-up (11 [55%] female, 9 [45%] male; median age 15 years; IQR 7.5-24). APDS type 2 was confirmed in 1 patient; five others harbored novel variants of uncertain significance. Conclusion: Delayed diagnosis and treatment of APDS may result in life-threatening complications and irreversible end-organ damage. Given its heterogeneous, overlapping phenotype, timely referral for genetic testing is essential.

Indexed as

Class I Phosphatidylinositol 3-KinasesPrimary Immunodeficiency DiseasesAdolescentAdultAlgorithmsChildChild, PreschoolCross-Sectional StudiesFemaleHumansInfantMaleMutationYoung AdultClass I Phosphatidylinositol 3-Kinasesactivated phosphoinositide 3-kinase delta syndromeAPDSdiagnostic strategiesinborn errors of immunityPIK3CDPIK3R1

Identifiers

PMID41583441
PMCPMC12823944

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Registered trials

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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.