trapianto di cellule staminali ematopoietiche

Una strana pancitopenia: dalla gestione in urgenza alla diagnosi genetica

Di Filippo M, Rossoni L, Nebiolo M, Fioredda F, Carrato V, Pirlo D

2024/10 — pag. 201-206 — DOI

Wiskott-Aldrich syndrome (WAS) is a rare X-linked genetic disorder caused by a mutation in the WAS gene that codes for the WASp protein, which is involved in the functioning of the cytoskeleton of non-erythroid haematopoietic cells. This mutation lea...

Febbre e citopenia nel neonato: pensa anche all'HLH (e dosa la ferritina!)

Operti M

2024/4 — pag. 80-81 — DOI

The author describes the case of a newborn with fever and cytopenia, eventually diagnosed as familial hemophagocytic lymphohistiocytosis....

Guardare oltre il tumore: le cancer-predisposing syndrome in età pediatrica

Bettini LR, Lauriola RS, Vendemini F, Coliva T, Biondi A, Cazzaniga G.

2023/4 — pag. 237-241 — DOI

About 10% of children with cancer carry a pathogenic mutation in genes predisposing to tumourigenesis. These mutations are being identified more and more frequently thanks to the use of next-generation sequencing techniques in the diagnostic work-up ...

Troppo stanca troppo presto: la leucemia mielomonocitica giovanile

S. Contorno

2019/4 — pag. 95-95

Valutazione della qualità della vita nei pazienti talassemici pediatrici post-trapianto

M. Ligas, M. Balzarini, F. Danjou, M.G. Orofino

2014/9

ß-talassemia (Parte seconda)

G. Bartolozzi

2006/2