Expanding the clinical spectrum of pediatric ataxia-telangiectasia: a case series of novel genetic variants, lupus vulgaris, and hyper-IgM phenotypes
This study highlights the importance of early diagnosis and genetic testing, particularly in atypical presentations. The recognition of novel infectious and autoimmune associations, along with novel variants, underscores the necessity of comprehensive, multidisciplinary follow-up and regional genetic screening efforts.
Authors
- Suna Asi̇lsoy (ORCID: https://orcid.org/0000-0002-4235-0995)
- Mehmet Kocabey (ORCID: https://orcid.org/0000-0001-9565-6907)
- Nevin Uzuner (ORCID: https://orcid.org/0000-0001-8862-7825)
- Özge Atay (ORCID: https://orcid.org/0000-0002-7673-3601)
- Damla Baysal Bakır (ORCID: https://orcid.org/0000-0003-2317-3281)
- Halime Yağmur
- Gizem Kabadayı
Institutions
- Dokuz Eylül University (TR)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-10-03
- DOI
- https://doi.org/10.1186/s13023-025-03942-7
- Primary Topic
- DNA Repair Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00