Kongenitální neutropenie u dětí a dospělých

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Title in English Congenital neutropenia in children and adults
Authors

STAŇO KOZUBÍK Kateřina VRZALOVÁ Zuzana TRIZULJAK Jakub SKALNÍKOVÁ Magdalena RADOVÁ Lenka BLAHÁKOVÁ Ivona ŠTIKA Jiří BERGEROVÁ Veronika ŠMÍDA Michal POSPÍŠILOVÁ Šárka DOUBEK Michael

Year of publication 2021
Type Article in Periodical
Magazine / Source Transfúze a hematologie dnes
MU Faculty or unit

Central European Institute of Technology

Citation
Web https://www.prolekare.cz/casopisy/transfuze-hematologie-dnes/2021-4-14/kongenitalni-neutropenie-u-deti-a-dospelych-129014
Doi http://dx.doi.org/10.48095/cctahd2021297
Keywords whole exome sequencing; hereditary neutropenia in adults; gene variants
Description Congenital neutropenias (CNs) are a group of genetic disorders that may even be dia­gnosed in adulthood. In such cases, they manifest most often as mild neutropenia and cytopenia and other clinical symptoms tend to be less pronounced compared to CN dia­gnosed in childhood. Several gene variants responsible for the CN phenotype have been identified by molecular genetic approaches, especially by exome sequencing. Mutations of some of these genes also increase the risk of patients developing myelodysplastic syndrome or acute myeloid leukaemia. Proper patient monitoring strategies, genetic counselling and optimal treatment protocols can substantially affect the prognosis of these disorders.
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