A rare case report of activated PI3K delta syndrome (APDS): diagnostic pitfalls
This case highlights the diagnostic challenges of APDS, arising from both overlapping clinical features with other immunodeficiencies and external factors such as cost and parental decision-making. Early genetic testing facilitates accurate diagnosis, and timely recognition of APDS enables appropriate management, including immunosuppressive, targeted therapies and, in selected cases, potentially curative hematopoietic stem cell transplantation.
Authors
- Adli Ali (ORCID: https://orcid.org/0000-0001-5615-5966)
- Fahisham Taib (ORCID: https://orcid.org/0000-0001-7088-4620)
- Zarina Thasneem Zainudeen (ORCID: https://orcid.org/0000-0002-7094-6374)
- Intan Juliana Abd Hamid (ORCID: https://orcid.org/0000-0001-6749-1498)
- Azlan Husin (ORCID: https://orcid.org/0000-0003-0899-0443)
- Mohamad Qazreen Ahmad Shawaludin
Institutions
- Universiti Sains Malaysia (MY)
- University Kebangsaan Malaysia Medical Centre (MY)
- Hospital Universiti Sains Malaysia (MY)
- Hospital Raja Perempuan Zainab II (MY)
Publication Details
- Journal
- BMC Pediatrics
- Published
- 2025-11-03
- DOI
- https://doi.org/10.1186/s12887-025-06286-0
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00