Familial Immune Thrombocytopenia Associated With a Novel Variant in IKZF1

• Main Authors: Panida Sriaroon (Author), Yenhui Chang (Author), Boglarka Ujhazi (Author), Krisztian Csomos (Author), Hemant R. Joshi (Author), Qin Zhou (Author), Devin W. Close (Author), Jolan E. Walter (Author), Attila Kumánovics (Author)
• Format: Book
• Published: Frontiers Media S.A., 2019-04-01T00:00:00Z.
• Subjects: article
• Online Access: 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...