Many signs, one mutation : Early onset of de novo GATA2 deficiency syndrome. A case report

We report a case with a broad spectrum of symptoms, related to GATA2 deficiency syndrome, which emerged as early as at 6 months of age. They ranged from lymphedema, deafness to myelodysplastic syndrome (MDS). Non-hematologic symptoms may long precede myelodysplastic syndrome diagnosis in patients with GATA2 mutations