A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis.
ThPOK 的多态性变异会导致先天性免疫缺陷,伴有 T 细胞缺陷和纤维化
期刊:Journal of Experimental Medicine
影响因子:10.6
doi:10.1084/jem.20241174
Vaseghi-Shanjani Maryam, Sharma Mehul, Yousefi Pariya, Samra Simran, Laverty Kaitlin U, Jolma Arttu, Razavi Rozita, Yang Ally H W, Albu Mihai, Golding Liam, Lee Anna F, Tan Ryan, Richmond Phillip A, Bosticardo Marita, Rayment Jonathan H, Yang Connie L, Hildebrand Kyla J, Brager Rae, Demos Michelle K, Lau Yu-Lung, Notarangelo Luigi D, Hughes Timothy R, Biggs Catherine M, Turvey Stuart E