Article
Systematic functional validation of IKAROS variants from patients and laboratory-generated mutations.
Blood advances - 10 Mar 2026
Kuehn Hye Sun, Gil Silva Agustin A, Klangkalya Natchanun, Esteve-Sole Ana, Goel Shubham, Niemela Julie E, Stoddard Jennifer L, Chong Hey, Williams Kelli, Ip Winnie, Framil Seoane Mario, Loganathan Sathish Kumar, Anantharachagan Ariharan, García-Soidán Ana, Shaffren Serena, Bindernagel Constance, Mendez Philip, Miller Rahim Z, Abolhassani Hassan, Hoytema van Konijnenburg David P, Geerlinks Ashley V, Cabanillas Diana, Zonneveld-Huijssoon Evelien, Rutgers Abraham, Tangye Stuart, Ma Cindy, Grey Alice, O'Young Patrick, Aldave Becerra Juan Carlos, Lyons Jonathan J, White Andrew A, Claiborne Michael, Doroudchi Mohammad-Ali, Modena Brian D, Milner Joshua D, Solanich Xavier, Farela Neves João, Platt Craig D, Hammarström Lennart, Routes John M, Verbsky James, Butte Manish J, Lesmana Harry, Griffiths William J H, Kumararatne Dinakantha, Hauck Fabian, Allende Luis M, Rodríguez-Gallego Carlos, Elfeky Reem, Rubin Tamar, Boztug Kaan, Fleisher Thomas A, Rosenzweig Sergio D
Abstract excerpt
ABSTRACT: The transcription factor IKAROS plays an important role in lymphocyte development, differentiation, and as a tumor suppressor. To date, >70 IKAROS germ line heterozygous variants have been reported in patients with primary immunodeficiency (PID)/inborn errors of immunity (IEI) and leukemia, and this number continues to grow. Germ line IKAROS loss- and gain-of-function mutations have been linked to...
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