Connecting the Dots from Fever of Unknown Origin to Myelodysplastic Syndrome: GATA2 Haploinsufficiency

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1 Scopus citations


Leukemia-predisposing conditions, such as GATA2 haploinsufficiency, are known for their high penetrance and expressivity profiles. These disorders pose a difficult diagnostic challenge to even the most experienced clinician when they first present. We describe the case of a 17-year-old male presenting with features of nontuberculous mycobacterial infection, pulmonary fibrinoid granulomatous vasculitis, and myelodysplasia in the setting of a pathogenic GATA2 frameshift mutation confirmed by next-generation sequencing. The broad differential for GATA2 haploinsufficiency requires prompt recognition of key clinical features and laboratory abnormalities towards directing diagnosis and guiding appropriate and perhaps life-saving therapy.

Original languageEnglish (US)
Pages (from-to)e365-e368
JournalJournal of Pediatric Hematology/Oncology
Issue number5
StatePublished - Jul 1 2020


  • GATA2
  • acute myelogenous leukemia
  • hematopoietic stem cell transplant
  • myelodysplastic syndrome
  • nontuberculous mycobacteria
  • pancytopenia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology


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