ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma.
Fu MP, Sharma M, Yousefi P, Merrill SM, Tan R, Samra S, Setiadi A, Golding L, Modi BP, Del Bel KL, Deyell RJ, Rozmus J, Rehmus W, Hildebrand KJ, James E, Blanchard-Rohner G, Lin S, Shopsowitz KE, Terry J, Lee AF, Drögemöller BI, Matthews A, Tarailo-Graovac M, Sauvé L, Mitchell H, Prendiville JS, MacIsaac JL, Dever K, Lin DTS, Meijer M, Ross CJD, Dobson SRM, Vercauteren SM, Wasserman WW, van Karnebeek CDM, McKinnon ML, Kobor MS, Turvey SE, Biggs CM.
Fu MP, et al. Among authors: shopsowitz ke.
J Exp Med. 2025 Oct 6;222(10):e20240945. doi: 10.1084/jem.20240945. Epub 2025 Jul 31.
J Exp Med. 2025.
PMID: 40742536