A Multimorphic Variant in ThPOK Causes an Inborn Error of Immunity with T Cell Defects and Fibrosis.
Maryam Vaseghi-Shanjani,Mehul Sharma, Pariya Yousefi, Simran Samra, Kaitlin U Laverty,Arttu Jolma, Rozita Razavi, Ally H W Yang,Mihai Albu, Liam Golding, Anna F Lee, Ryan Tan,Phillip A Richmond,Marita Bosticardo,Jonathan H Rayment,Connie L Yang,Kyla J Hildebrand, Rae Brager, Michelle K Demos,Yu-Lung Lau,Luigi D Notarangelo, Timothy R Hughes,Catherine M Biggs,Stuart E Turvey The Journal of experimental medicine(2025)
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