210 A multimorphic variant in ThPOK causes a novel human disease characterized by T cell immune developmental abnormalities, immunodysregulation, atopy, and organ fibrosis

Autor: Vaseghi-Shanjani, Maryam, Sharma, Mehul, Yousefi, Pariya, Samra, Simran, Laverty, Kaitlin, Jolma, Arttu, Golding, Liam, Razavi, Rozita, Yang, Ally, Albu, Mihai, Lee, Anna, Tan, Ryan, Richmond, Phillip, Bosticardo, Marita, Rayment, Jonathan, Yang, Connie, Hildebrand, Kyla, Brager, Rae, Demos, Michelle, Lau, Yu-Lung, Notarangelo, Luigi, Hughes, Timothy, Bosselut, Remy, Biggs, Catherine, Turvey, Stuart E.
Zdroj: In Clinical Immunology May 2024 262 Supplement
Databáze: ScienceDirect