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Article

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

Frontiers in immunology - 1 Jan 2025

Bozkurt Selcen, Ozturk Necmiye, Altunbas Melek Yorgun, Can Salim, Amirov Razin, Mahmudov Ramin, Colak Burkay Cagan, Karabiber Esra, Baronio Manuela, Lougaris Vassilios, Tessarin Giulio, Bilgic-Eltan Sevgi, Ozen Ahmet, Baris Safa, Karakoc-Aydiner Elif

Abstract excerpt

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...

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Identifiers

PMID: 41583441
DOI: 10.3389/fimmu.2025.1735023
PMCID: PMC12823944

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