Department of Pediatrics and Center for Genetic Errors of Immunity, Columbia University Medical Center, New York, NY, USA.
J Exp Med. 2024 Aug 5;221(8). doi: 10.1084/jem.20240841. Epub 2024 Jun 13.
Genetic variation in UNC93B1, a key component in TLR trafficking, can lead to autoinflammation caused by increased TLR activity. Analysis of seven patient variants combined with a comprehensive alanine screen revealed that different regions of UNC93B1 selectively regulate different TLRs (Rael et al. https://doi.org/10.1084/jem.20232005; David et al. https://doi.org/10.1084/jem.20232066).
UNC93B1 中的遗传变异是 TLR 运输的关键组成部分,可导致 TLR 活性增加引起的自身炎症。对七个患者变异体的分析与全面的丙氨酸筛选相结合,表明 UNC93B1 的不同区域选择性地调节不同的 TLR(Rael 等人,https://doi.org/10.1084/jem.20232005;David 等人,https://doi.org/10.1084/jem.20232066)。