GATA2 deficiency phenotype associated with tandem duplication of GATA2 and overexpression of GATA2-AS1

A 3-year-old girl of nonconsanguineous healthy parents presented with cervical and mediastinal lymphadenopathy due to Mycobacterium fortuitum infection. Routine blood analysis showed normal hemoglobin, neutrophils, and platelets but profound mononuclear cell deficiency (monocytes < 0.1 × 10(9)/L;...

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Detalles Bibliográficos
Autores principales: Singh, Preeti, Heer, Maninder, Resteu, Anastasia, Mikulasova, Aneta, Reza, Mojgan, Largeaud, Laëtitia, Dufrechou, Stéphanie, Prade, Naïs, Dickinson, Rachel E., Bustamante, Jacinta, Neven, Bénédicte, Bigley, Venetia, Delabesse, Eric, Rico, Daniel, Pasquet, Marlène, Collin, Matthew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Hematology 2021
Materias:
Exceptional Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8714714/
https://www.ncbi.nlm.nih.gov/pubmed/34638133
http://dx.doi.org/10.1182/bloodadvances.2021005217

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8714714/
https://www.ncbi.nlm.nih.gov/pubmed/34638133
http://dx.doi.org/10.1182/bloodadvances.2021005217

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