Familial Immune Thrombocytopenia Associated With a Novel Variant in IKZF1

• Autors principals: Panida Sriaroon (Autor), Yenhui Chang (Autor), Boglarka Ujhazi (Autor), Krisztian Csomos (Autor), Hemant R. Joshi (Autor), Qin Zhou (Autor), Devin W. Close (Autor), Jolan E. Walter (Autor), Attila Kumánovics (Autor)
• Format: Llibre
• Publicat: Frontiers Media S.A., 2019-04-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

We report a novel variant in IKZF1 associated with IKAROS haploinsufficiency in a patient with familial immune thrombocytopenia (ITP). IKAROS, encoded by the IKZF1 gene, is a hematopoietic zinc-finger transcription factor that can directly bind to DNA. We show that the identified IKZF1 variant (p.Hi...