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Case Reports
. 2020 Sep 30;8(12):3193-3197.
doi: 10.1002/ccr3.3304. eCollection 2020 Dec.

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

Maria Laura Blanco  1 , Montserrat Torrent  2 , Elena Bussaglia  1 , Isabel Badell  2 , Josep F Nomdedéu  1
Affiliations
Case Reports

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

Maria Laura Blanco et al. Clin Case Rep. .

Abstract

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).

Keywords: GATA2; deafness; lymphedema; myelodysplastic syndrome; warts.

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Conflict of interest statement

None declared.

Figures

Figure 1
Figure 1
A, Degranulated neutrophil. B and D, Atypical megakaryocytes. C, Bone marrow section showing hypocellularity. E) Right lower extremity lymphedema
Figure 2
Figure 2
GATA2 Sanger sequencing for the patient and his family (top). NGS findings are also shown (bottom)
See this image and copyright information in PMC

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