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).

Detalles Bibliográficos
Autores principales: Blanco, Maria Laura, Torrent, Montserrat, Bussaglia, Elena, Badell, Isabel, Nomdedéu, Josep F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752306/
https://www.ncbi.nlm.nih.gov/pubmed/33363905
http://dx.doi.org/10.1002/ccr3.3304
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author Blanco, Maria Laura
Torrent, Montserrat
Bussaglia, Elena
Badell, Isabel
Nomdedéu, Josep F.
author_facet Blanco, Maria Laura
Torrent, Montserrat
Bussaglia, Elena
Badell, Isabel
Nomdedéu, Josep F.
author_sort Blanco, Maria Laura
collection PubMed
description 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).
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spelling pubmed-77523062020-12-23 Many signs, one mutation: Early onset of de novo GATA2 deficiency syndrome. A case report Blanco, Maria Laura Torrent, Montserrat Bussaglia, Elena Badell, Isabel Nomdedéu, Josep F. Clin Case Rep Case Reports 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). John Wiley and Sons Inc. 2020-09-30 /pmc/articles/PMC7752306/ /pubmed/33363905 http://dx.doi.org/10.1002/ccr3.3304 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Blanco, Maria Laura
Torrent, Montserrat
Bussaglia, Elena
Badell, Isabel
Nomdedéu, Josep F.
Many signs, one mutation: Early onset of de novo GATA2 deficiency syndrome. A case report
title Many signs, one mutation: Early onset of de novo GATA2 deficiency syndrome. A case report
title_full Many signs, one mutation: Early onset of de novo GATA2 deficiency syndrome. A case report
title_fullStr Many signs, one mutation: Early onset of de novo GATA2 deficiency syndrome. A case report
title_full_unstemmed Many signs, one mutation: Early onset of de novo GATA2 deficiency syndrome. A case report
title_short Many signs, one mutation: Early onset of de novo GATA2 deficiency syndrome. A case report
title_sort many signs, one mutation: early onset of de novo gata2 deficiency syndrome. a case report
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752306/
https://www.ncbi.nlm.nih.gov/pubmed/33363905
http://dx.doi.org/10.1002/ccr3.3304
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