Clinical and genetic features of UNC13D deficiency with hypogammaglobulinemia
Our study presents the first comprehensive description of the clinical features of UNC13D deficiency with hypogammaglobulinemia. Patients with this condition tend to exhibit more severe clinical manifestations and a poorer prognosis. Allogeneic HSCT may help mitigate immune dysregulation.
Authors
- Qian Zhao (ORCID: https://orcid.org/0000-0002-2277-6243)
- Xi Yang (ORCID: https://orcid.org/0009-0000-9664-4473)
- Qin Zhao (ORCID: https://orcid.org/0000-0003-4223-9522)
- Hirokazu Kanegane (ORCID: https://orcid.org/0000-0002-8696-9378)
- Yunfei An (ORCID: https://orcid.org/0000-0001-9664-1256)
- Zhiyong Zhang (ORCID: https://orcid.org/0000-0001-8576-1607)
- Xiaodong Zhao (ORCID: https://orcid.org/0000-0002-9379-5265)
- Xuemei Tang (ORCID: https://orcid.org/0000-0002-4476-506X)
- Linyan Xiong
Institutions
- Tokyo Medical and Dental University (JP)
- China International Science and Technology Cooperation (CN)
- Children's Hospital of Chongqing Medical University (CN)
- Chongqing Medical University (CN)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2025-08-18
- DOI
- https://doi.org/10.3389/fimmu.2025.1628507
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Chongqing Municipal Education Commission
- Centre Scientifique et Technique du Bâtiment