###EgeUn###Congenital neutropenia (CN) is a rare disorder, and the most common gene responsible for CN is ELANE. Furthermore, the mutations of HAX1, G6PC3, and JAGN1 genes may cause CN. These patients generally find great benefit from subcutaneous administration of Granulocyte Colony Stimulating Factor (GCSF). In recent years, Biallelic Colony Stimulating Factor 3 Receptor (CSF3R) mutations have been described as an underlying defect of CN in several children. In contrast to the previous group, the patients who have a CSF3R mutation do not respond to GCSF treatment. Here, we present a CN patient with hypomorphic biallelic CSF3R mutation responding to GCSF
Severe congenital neutropenia (SCN) is a rare primary immunodeficiency. Different genes are found to...
Severe congenital neutropenia (SCN) is a rare disease that involves a heterogeneous group of heredit...
SummarySevere congenital neutropenia (SCN) is characterized by a deficiency of mature neutrophils, l...
WOS: 000524726900008PubMed: 30499904Severe Congenital Neutropenia (SCN) is a rare inherited disease ...
Severe congenital neutropenia (SCN) is characterized by low numbers of peripheral neutrophil granulo...
This study reports the clinical manifestations, genetics, and efficacy of treatment with the efficac...
Most severe congenital neutropenia (SCN) cases possess constitutive neutrophil elastase mutations; a...
The treatment of children affected by severe congenital neutropenia (SCN) with G-CSF strongly reduce...
textabstractSevere congenital neutropenia (SCN) is a heterogeneous condition characterized...
Point mutations in the gene for the granu-locyte colony-stimulating factor (G-CSF) receptor CSF3R ha...
Severe congenital neutropenia (SCN) patients are prone to develop myelodysplastic syndrome (MDS) or ...
We identify an autosomal mutation in the CSF3R gene in a family with a chronic neutrophilia. This T6...
We have analysed a family with nine congenital neutropenia patients in four generations, several of ...
OVER THE PAST DECADE, ENORMOUS PROGRESS HAS BEEN MADE IN THE UNDERSTANDING OF SEVERE CONGENITAL NEUT...
textabstractSevere congenital neutropenia (Kostmann syndrome) is characterized by profoun...
Severe congenital neutropenia (SCN) is a rare primary immunodeficiency. Different genes are found to...
Severe congenital neutropenia (SCN) is a rare disease that involves a heterogeneous group of heredit...
SummarySevere congenital neutropenia (SCN) is characterized by a deficiency of mature neutrophils, l...
WOS: 000524726900008PubMed: 30499904Severe Congenital Neutropenia (SCN) is a rare inherited disease ...
Severe congenital neutropenia (SCN) is characterized by low numbers of peripheral neutrophil granulo...
This study reports the clinical manifestations, genetics, and efficacy of treatment with the efficac...
Most severe congenital neutropenia (SCN) cases possess constitutive neutrophil elastase mutations; a...
The treatment of children affected by severe congenital neutropenia (SCN) with G-CSF strongly reduce...
textabstractSevere congenital neutropenia (SCN) is a heterogeneous condition characterized...
Point mutations in the gene for the granu-locyte colony-stimulating factor (G-CSF) receptor CSF3R ha...
Severe congenital neutropenia (SCN) patients are prone to develop myelodysplastic syndrome (MDS) or ...
We identify an autosomal mutation in the CSF3R gene in a family with a chronic neutrophilia. This T6...
We have analysed a family with nine congenital neutropenia patients in four generations, several of ...
OVER THE PAST DECADE, ENORMOUS PROGRESS HAS BEEN MADE IN THE UNDERSTANDING OF SEVERE CONGENITAL NEUT...
textabstractSevere congenital neutropenia (Kostmann syndrome) is characterized by profoun...
Severe congenital neutropenia (SCN) is a rare primary immunodeficiency. Different genes are found to...
Severe congenital neutropenia (SCN) is a rare disease that involves a heterogeneous group of heredit...
SummarySevere congenital neutropenia (SCN) is characterized by a deficiency of mature neutrophils, l...