GATA2 Deficiency in Adult Life Is Characterized by Phenotypic Diversity and Delayed Diagnosis

The transcription factor GATA2 plays a key role in the survival and self-renewal of hematopoietic stem and progenitor cells. Autosomal dominant variants in GATA2 cause a broad spectrum of heterogeneous phenotypes. Here, we present our experience with GATA2 deficiency in a retrospective multicenter a...

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Main Authors: Oded Shamriz, Naseem Zahalka, Amos J. Simon, Atar Lev, Ortal Barel, Nofar Mor, Yuval Tal, Michael J. Segel, Raz Somech, Hagith Yonath, Ori Toker
Formáid: Artigo
Teanga:Inglês
Foilsithe: Frontiers Media S.A. 2022-05-01
Sraith:Frontiers in Immunology
Ábhair:
GATA2
exome
primary immune deficiency (PID)
hematopoietic
diagnosis
Rochtain Ar Líne:https://www.frontiersin.org/articles/10.3389/fimmu.2022.886117/full
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