MonoMAC syndrome with GATA2 novel mutation: A case report

•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...

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Bibliographic Details
Published in:Leukemia research reports 2022-01, Vol.18, p.100346, Article 100346
Main Authors: Belohlavkova, Petra, Hrochova, Katerina, Fatorova, Ilona, Zak, Pavel
Format: Article
Language:English
Subjects:
GATA2 deficiency
MonoMAC syndrome
Myelodysplastic syndrome
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Summary:•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. GATA2 deficiency was first identified in 2011 and have been reported over 500 individuals with GATA2 mutations. The onset of symptoms ranges from early childhood to late adulthood but very often the diagnosis is made between adolescence and early adulthood. These patients can be relatively asymptomatic or have life threatening diseaseas (myelodysplastic syndrome, acute leukemia). We describe case of 30-years old women with GATA2 novel mutation who present by primary lymphedema, myelodysplastic changes in bone marrow, monocytopenia and history of several recurrent infections (bacterial, mycobacterial). The case illustrates the diagnostic difficulties in identifying GATA2 deficiencies.
ISSN:2213-0489
2213-0489
DOI:10.1016/j.lrr.2022.100346