Expanding clinical characteristics and genotypic profiling of Yao syndrome in Chinese patients
Chinese patients with YAOS had more pronounced inflammatory manifestations compared to the Caucasian cohort. Variants c.-14C>T, A110T, S127L, A661P, K818Q, A886V, R471C, and A432V were identified as novel <i>NOD2</i> variants in YAOS. TNF, IL-6, and IL-1 inhibitors are the promising treatment options. These findings expand the clinical spectrum, genetic profile, and treatment efficacy of YAOS, underscoring the need for heightened awareness of this disease in diverse populations.
Authors
- Min Shen (ORCID: https://orcid.org/0000-0003-1912-126X)
- Jingyuan Zhang (ORCID: https://orcid.org/0009-0009-6242-2106)
- Xin Huang (ORCID: https://orcid.org/0000-0003-4689-6263)
Institutions
- Ministry of Education of the People's Republic of China (CN)
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Peking Union Medical College Hospital (CN)
- National Clinical Research (US)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2024-09-03
- DOI
- https://doi.org/10.3389/fimmu.2024.1444542
- Citations
- 3
- Primary Topic
- Inflammasome and immune disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.70
Funders
- Peking Union Medical College Hospital