Two Novel Variants in the LRR Domain of <i>NLRP3</i> Causing Leukoencephalopathy: A Case Report
Neurological involvement in <i>NLRP3</i>-AID patients is variable. This study expands the clinical spectrum of CNS damage in <i>NLRP3</i>-AID to include intracranial calcification and leukoencephalopathy. Additionally, two novel <i>NLRP3</i> variants, L798M and K829T, were identified and associated with the disease.
Authors
- Nan Lin (ORCID: https://orcid.org/0000-0002-4635-3966)
- Min Shen (ORCID: https://orcid.org/0000-0002-8218-0433)
- Na Wu (ORCID: https://orcid.org/0000-0002-4104-4582)
- Zengwei Feng (ORCID: https://orcid.org/0000-0002-8222-5427)
- Yuxia Shao
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Peking Union Medical College Hospital (CN)
- National Clinical Research Center for Digestive Diseases (CN)
- Daqing Oilfield General Hospital (CN)
- Binzhou People's Hospital (CN)
- Beijing Tsinghua Chang Gung Hospital (CN)
Publication Details
- Journal
- Discovery Medicine
- Published
- 2025-01-01
- DOI
- https://doi.org/10.24976/discov.med.202537194.51
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Peking Union Medical College Hospital