Case Report: Clinical manifestations of uncommon monogenic disorders: revisiting activated phosphoinositide 3-kinase delta syndrome 2
This report highlights the clinical presentation of APDS2, a rare monogenic IEI in children, including the atypical manifestation of RJP and the common feature of lymphadenopathy. Pediatricians should stay vigilant for red flags of IEI during clinical evaluations, as early diagnosis and multidisciplinary care are crucial for effective management.
Authors
- Yulia Khavkin
- Chen Nadler (ORCID: https://orcid.org/0000-0002-2218-3966)
- Rachel Eisenberg
- Amarilla B. Mandola (ORCID: https://orcid.org/0000-0001-9194-6798)
- Raz Somech (ORCID: https://orcid.org/0000-0001-6648-9425)
- Pierre Attal (ORCID: https://orcid.org/0000-0002-5272-695X)
- Oded Shamriz (ORCID: https://orcid.org/0000-0003-3188-2707)
- Anthony Simon (ORCID: https://orcid.org/0000-0003-0511-4122)
- Ortal Barel (ORCID: https://orcid.org/0000-0003-1168-9758)
- Ori Toker (ORCID: https://orcid.org/0000-0002-5248-3193)
- Atar Lev (ORCID: https://orcid.org/0000-0003-3416-1243)
Institutions
- Hebrew University of Jerusalem (IL)
- Sheba Medical Center (IL)
- Hadassah Medical Center (IL)
- Shaare Zedek Medical Center (IL)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-04-29
- DOI
- https://doi.org/10.3389/fped.2025.1570600
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00