B cell dysfunction in thalamus and brainstem involvement and high lactate caused by novel mutation of EARS2 gene
We identified a novel mutation of the EARS2 gene in a patient with LTBL, expanding the mutation database. The mutation of EARS2 modified protein structure and impaired B-cell function, decreased CD38 expression, and led to dysfunction of mitochondrial metabolism, all of which may account for the recurrent respiratory tract infections and humoral immune disorders observed in LTBL.
Authors
- Yu Wen
- Xiufen Hu
- Yanmei Huang (ORCID: https://orcid.org/0000-0003-0450-9173)
- Xin Xiong (ORCID: https://orcid.org/0000-0002-1162-5220)
- Ping Chen (ORCID: https://orcid.org/0000-0003-1222-7870)
- Li Luo (ORCID: https://orcid.org/0000-0002-3503-9998)
- Wendi Zhang (ORCID: https://orcid.org/0009-0003-0127-6594)
Institutions
- Tongji Hospital (CN)
- Huazhong University of Science and Technology (CN)
Publication Details
- Journal
- The Italian Journal of Pediatrics/Italian journal of pediatrics
- Published
- 2025-05-19
- DOI
- https://doi.org/10.1186/s13052-025-01999-5
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Hubei Province