Activated PI3Kδ syndrome in inborn errors of immunity: diagnostic strategies and clinical challenges
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.
Authors
- Esra KARABİBER
- Giulio Tessarin
- Safa Baris
- Selcen Bozkurt (ORCID: https://orcid.org/0000-0002-1158-2072)
- Salim Can (ORCID: https://orcid.org/0000-0003-3797-3001)
- Manuela Baronio
- Melek Yorgun Altunbaş (ORCID: https://orcid.org/0000-0002-4832-2928)
- Ramin Mahmudov
- Ahmet Özen
- Sevgi Bilgic-Eltan
- Lougaris Vassilios
- Necmiye Öztürk
- Razin Amirov
- Burkay Cagan Colak
- Elif Karakoc-Aydiner
Institutions
- Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia (IT)
- Marmara University (TR)
- University of Brescia (IT)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2026-01-08
- DOI
- https://doi.org/10.3389/fimmu.2025.1735023
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00