Early-onset neutropenia and mixed phenotype in ADA2 deficiency: diagnostic and therapeutic challenges
Our findings reinforce that DADA2 can initially present as isolated neutropenia, and frequently exhibits a mixed phenotype encompassing hematologic, immunologic, and inflammatory features. HLH is a severe complication that may arise without infectious triggers. Genetic testing for <i>ADA2</i> should be incorporated into diagnostic panels for congenital neutropenia to avoid delays in diagnosis. Genotype-phenotype correlations offer some prognostic insights, but residual enzyme activity may not fully predict disease severity, underscoring the need for individualized management.
Authors
- Ö. Uçar (ORCID: https://orcid.org/0000-0003-1017-2052)
- Michael S. Hershfield (ORCID: https://orcid.org/0000-0003-3589-8554)
- Teresa K. Tarrant (ORCID: https://orcid.org/0000-0003-4067-5363)
- Çiğdem Aydoğmuş (ORCID: https://orcid.org/0000-0002-6036-7694)
- Barış Çil (ORCID: https://orcid.org/0000-0003-1090-0697)
- Sibel Kaplan Sarıkavak (ORCID: https://orcid.org/0000-0003-0214-0392)
- Pinar Gökmirza
Institutions
- Duke University (US)
- Haseki Eğitim ve Araştırma Hastanesi (TR)
- Durham VA Health Care System (US)
- Sağlık Bilimleri Üniversitesi (TR)
- Gaziosmanpaşa Taksim Eğitim ve Araştırma Hastanesi (TR)
- University of Health Sciences Antigua (AG)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2025-10-02
- DOI
- https://doi.org/10.3389/fimmu.2025.1639318
- Primary Topic
- Blood disorders and treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00