MonoMAC syndrome with GATA2 novel mutation: A case report
Leukemia Research Reports(2022)
Abstract
•GATA2 deficiency is a grouping of several disorders caused by common defect in GATA2 genes.•Age at disease onset ranges from early childhood to late adulthood, and clinical presentations range from asymptomatic to life-threatening infections, leukemia, and respiratory failure.•GATA2 mutations were identified as a significant MDS/AML genetic predisposition.
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Key words
GATA2 deficiency,MonoMAC syndrome,Myelodysplastic syndrome
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