Expanding the clinical spectrum of Cernunnos/XLF deficiency: a literature review of a rare cause of severe combined immunodeficiency including a novel case
This study describes a rare case of Cernunnos/XLF deficiency diagnosed in early infancy, underscoring the value of early recognition and the critical role of genetic testing and HSCT. It also expands the clinical spectrum of the disease and provides a comparative perspective with previously reported patients carrying the same mutation. In infants presenting with unexplained infections or complications related to live vaccines, inborn errors of immunity should be considered. Our findings emphasize the importance of timely diagnosis and comprehensive, multidisciplinary follow-up, particularly in patients with additional complications.
Authors
- Salih Gözmen (ORCID: https://orcid.org/0000-0002-8585-9628)
- Nevin Uzuner (ORCID: https://orcid.org/0000-0001-8862-7825)
- Özge Atay (ORCID: https://orcid.org/0000-0002-7673-3601)
- Sultan Okur Acar (ORCID: https://orcid.org/0000-0002-5768-0890)
- Fılız Hazan (ORCID: https://orcid.org/0000-0002-0382-3446)
- Damla Baysal Bakır (ORCID: https://orcid.org/0000-0003-2317-3281)
- Şerife Öztürk Yılmaz (ORCID: https://orcid.org/0009-0000-6970-1436)
- Halime Yağmur (ORCID: https://orcid.org/0009-0008-6132-3686)
- Gizem Kabadayı (ORCID: https://orcid.org/0000-0002-5627-7979)
- Esma Tuğba Kaşıkçı Mermer (ORCID: https://orcid.org/0000-0002-8183-4124)
Institutions
- Dokuz Eylül University (TR)
- Izmir Kâtip Çelebi University (TR)
- Dr. Behçet Uz Çocuk Hastalıkları Hastanesi (TR)
Publication Details
- Journal
- BMC Immunology
- Published
- 2025-11-12
- DOI
- https://doi.org/10.1186/s12865-025-00774-9
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00