Case Report: A novel de novo SPI1 mutation identified in a Chinese patient with agammaglobulinemia
We report the first Chinese case of PU.1 deficiency caused by a novel <i>SPI1</i> mutation. Our finding reinforces the need to include SPI1 in diagnostic panels for agammaglobulinemia. Moreover, the severe viral meningoencephalitis after HSCT, despite immune reconstitution, underscores the critical need for aggressive peri-transplant surveillance.
Authors
- Ming Deng (ORCID: https://orcid.org/0000-0003-4916-4877)
- Xiaomei Lu (ORCID: https://orcid.org/0000-0002-1647-0547)
- Siping Li (ORCID: https://orcid.org/0000-0002-8049-6979)
- Xiaomei Zeng (ORCID: https://orcid.org/0000-0001-9101-1677)
- Peng Qi (ORCID: https://orcid.org/0000-0003-4661-8212)
- Mingyu Xie (ORCID: https://orcid.org/0009-0008-5156-5032)
- Qingqiu Cheng
Institutions
- Guangdong Medical College (CN)
- Dongguan University of Technology (CN)
- Dongguan People’s Hospital (CN)
- Tang Hospital (CN)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2025-11-28
- DOI
- https://doi.org/10.3389/fimmu.2025.1716208
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China