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

doi:10.3389/fimmu.2022.886117

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Article

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

Frontiers in immunology - 1 Jan 2022

Shamriz Oded, Zahalka Naseem, Simon Amos J, Lev Atar, Barel Ortal, Mor Nofar, Tal Yuval, Segel Michael J, Somech Raz, Yonath Hagith, Toker Ori

Abstract excerpt

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 analysis of computerized medical records of adult patients (age ≥18 years) treated between 2018 and 2022 at Shaare...

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PMID: 35603181
DOI: 10.3389/fimmu.2022.886117
PMCID: PMC9120659

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