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

IntroductionThis 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 fo...

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Päätekijät: Selcen Bozkurt, Necmiye Ozturk, Melek Yorgun Altunbas, Salim Can, Razin Amirov, Ramin Mahmudov, Burkay Cagan Colak, Esra Karabiber, Manuela Baronio, Vassilios Lougaris, Giulio Tessarin, Sevgi Bilgic-Eltan, Ahmet Ozen, Safa Baris, Elif Karakoc-Aydiner
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Frontiers Media S.A. 2026-01-01
Sarja:Frontiers in Immunology
Aiheet:
activated phosphoinositide 3-kinase delta syndrome
APDS
diagnostic strategies
inborn errors of immunity
PIK3CD
PIK3R1
Linkit:https://www.frontiersin.org/articles/10.3389/fimmu.2025.1735023/full
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