A novel CTLA-4 deletion variant in a child with refractory autoimmune hemolytic anemia: molecular and functional characterization
The <i>CTLA-4</i> (c.362_391del) variant may contribute to refractory AIHA in children. This case highlights the potential necessity of including <i>CTLA-4</i> variants in the differential diagnosis of pediatric AIHA, particularly when conventional therapies prove ineffective, and warrants further validation in larger cohorts.
Authors
- Qian Wan (ORCID: https://orcid.org/0000-0001-9243-8939)
- Chongjun Wu (ORCID: https://orcid.org/0000-0001-7529-2747)
- Feng Chen (ORCID: https://orcid.org/0000-0003-3508-8834)
- Siyu Lei
- Ting Xiong (ORCID: https://orcid.org/0000-0003-1396-7416)
- Zhongjin Xu
- Caihui Yuan
Institutions
- Nanchang University (CN)
- First Affiliated Hospital of Jiangxi Medical College (CN)
- Jiangxi Provincial Children's Hospital (CN)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2025-11-19
- DOI
- https://doi.org/10.3389/fimmu.2025.1665184
- Primary Topic
- Blood groups and transfusion
- Type
- article
- Field-Weighted Citation Impact
- 0.00