Article

GATA2 deficiency syndrome: A decade of discovery

2021-02-28

Abstract excerpt

GATA2 deficiency syndrome (G2DS) is a rare autosomal dominant genetic disease predisposing to a range of symptoms of which myeloid malignancy and immunodeficiency including recurrent infections are most common. In the last decade since it was first reported, there have been over 465 individuals identified carrying a pathogenic or likely pathogenic germline GATA2 variant with symptoms of G2DS, with 231 of these con...

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Literature Corpus work: ccb0a509-c6a4-5276-a5a3-64943cec6c74
DOI: 10.22541/au.161453332.24299786/v1

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