Familial Immune Thrombocytopenia Associated With a Novel Variant in IKZF1

• Hlavní autoři: 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)
• Médium: Kniha
• Vydáno: Frontiers Media S.A., 2019-04-01T00:00:00Z.
• Témata: article
• On-line přístup: 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...