Familial Immune Thrombocytopenia Associated With a Novel Variant in IKZF1

Familial Immune Thrombocytopenia Associated With a Novel Variant in IKZF1

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...

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Bibliographic Details
Main Authors: Panida Sriaroon, Yenhui Chang, Boglarka Ujhazi, Krisztian Csomos, Hemant R. Joshi, Qin Zhou, Devin W. Close, Jolan E. Walter, Attila Kumánovics
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-04-01
Series:Frontiers in Pediatrics
Subjects:
primary immunodeficiency
autoimmunity
immune thrombocytopenia
ITP
IKAROS deficiency
IKZF1
Online Access:https://www.frontiersin.org/article/10.3389/fped.2019.00139/full

Internet

https://www.frontiersin.org/article/10.3389/fped.2019.00139/full

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