Blood advances
Systematic functional validation of IKAROS variants from patients and laboratory-generated mutations.
Hye Sun Kuehn, Agustin Alejandro Gil Silva, Natchanun Klangkalya, Ana Esteve-Sole, Shubham Goel, Julie E Niemela, Jennifer L Stoddard, Hey Chong, Kelli W Williams, Winnie Ip, Mario Framil Seoane, Sathish K Loganathan, Ariharan Anantharachagan, Ana García-Soidán, Serena Beth Shaffren
Published: 202510.1182/bloodadvances.2025017243
Abstract
The transcription factor IKAROS plays an important role in lymphocyte development, differentiation, and as a tumor suppressor. To date, more than 70 IKAROS germline heterozygous variants have been reported in patients with primary immunodeficiency (P…
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