|
Congenital neutropenia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hypotheses underlying our model are: an ELANE mutation causes SCN; CSF3R mutations occur spontaneously at a low rate; in fetal life, hematopoietic stem and progenitor cells expands quickly, resulting in a high probability of several tens to several hundreds of cells with CSF3R truncation mutations; therapeutic granulocyte colony-stimulating factor (G-CSF) administration early in life exerts a strong selective pressure, providing mutants with a growth advantage.
|
30615612 |
2019 |
|
Congenital neutropenia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These data show that hematopoietic stress, including granulocyte colony-stimulating factor, do not increase the mutation burden in HSPCs in congenital neutropenia.
|
29092827 |
2018 |
|
Congenital neutropenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
VPS45-associated severe congenital neutropenia (SCN) is a rare disorder characterized by life-threating infections, neutropenia, neutrophil and platelet dysfunction, poor response to filgrastim, and myelofibrosis with extramedullary hematopoiesis.
|
28453180 |
2017 |
|
Congenital neutropenia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We describe a successful procedure to help alleviate symptoms of OSA and FTT in this young infant with congenital neutropenia who developed TAH during treatment with G-CSF.
|
28390595 |
2017 |
|
Congenital neutropenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Advances in supportive care, first and foremost the use of recombinant human granulocyte-colony stimulating factor, has made a substantial difference for the quality of life and life expectancy of patients with congenital neutropenia (CN).
|
27913459 |
2016 |
|
Congenital neutropenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
CSF3 therapy has greatly improved the life expectancy of SCN patients, but also unveiled a high frequency of progression toward myelodysplastic syndrome (MDS) and therapy refractory acute myeloid leukemia (AML).
|
26637693 |
2015 |
|
Congenital neutropenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Similarly, high-dose G-CSF (or downstream signaling through AKT/BCL2) rescues the dysgranulopoietic defect in SCN patient-derived iPSCs through C/EBPβ-dependent emergency granulopoiesis.
|
26193632 |
2015 |
|
Congenital neutropenia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The transcription factor lymphoid enhancer-binding factor 1 (LEF-1), which plays a definitive role in granulocyte colony-stimulating factor (G-CSF) receptor-triggered granulopoiesis, is downregulated in granulocytic progenitors of severe congenital neutropenia (CN) patients.
|
24394665 |
2014 |
|
Congenital neutropenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Granulocyte colony-stimulating factor receptor signaling: implications for G-CSF responses and leukemic progression in severe congenital neutropenia.
|
23351988 |
2013 |
|
Congenital neutropenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
G6PC3 deficiency should be considered as part of the differential diagnoses in any patient with unexplained congenital neutropenia.Treatment with G-CSF leads to improvement in neutrophil numbers, prevents infections and improves quality of life.
|
23758768 |
2013 |
|
Congenital neutropenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Granulopoiesis from SCN-iPS cells revealed neutrophil maturation arrest and little sensitivity to granulocyte-colony stimulating factor, reflecting a disease status of SCN.
|
23382209 |
2013 |
|
Congenital neutropenia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report the case of a premature male infant with congenital neutropenia, associated with multiple infections, refractory to treatment with granulocyte colony stimulating factor who subsequently underwent matched sibling donor stem-cell transplant.
|
21618407 |
2011 |
|
Congenital neutropenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Long-term treatment with G-CSF, especially at high doses, augments the spontaneous risk of leukemia in patients with congenital neutropenia.
|
21595885 |
2011 |
|
Congenital neutropenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
This specifically applies to children with severe congenital neutropenia who receive lifelong treatment with G-CSF and in which the high susceptibility to develop MDS and acute myeloid leukemia (AML) has now become a major clinical concern.
|
20237318 |
2010 |
|
Congenital neutropenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recently, we identified nicotinamide phosphoribosyltransferase (NAMPT), also known as pre-B cell colony enhancing factor (PBEF), as an essential enzyme mediating granulocyte colony-stimulating factor (G-CSF)-triggered granulopoiesis in healthy individuals and in individuals with CN.
|
19796237 |
2009 |
|
Congenital neutropenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the G-CSFR in patients with severe congenital neutropenia (SCN) transforming to acute myelogenous leukemia (AML) have been shown to induce hypersensitivity and enhanced growth responses to G-CSF.
|
18923646 |
2008 |
|
Congenital neutropenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
These data add to our knowledge of SCN and further highlight the importance of STAT5 in mediating proliferative responses to G-CSF.
|
18513286 |
2008 |
|
Congenital neutropenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Patients with severe congenital neutropenia (SCN) experience recurrent and chronic infections despite recombinant G-CSF-mobilized neutrophils.
|
18703682 |
2008 |
|
Congenital neutropenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Thereby, we propose that the treatment with G-CSF is not sufficient to correct all of the functional deficiency of neutrophils, and this might account for the consistent risk of infections observed in SCN patients.
|
17311988 |
2007 |
|
Congenital neutropenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Point mutations in the gene for the granulocyte colony-stimulating factor (G-CSF) receptor CSF3R have been implicated in the progression of severe congenital neutropenia (CN) to leukemia.
|
16985178 |
2007 |
|
Congenital neutropenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Granulocyte colony-stimulating factor (GCSF) administration has been linked to the development of monosomy 7 in severe congenital neutropenia and aplastic anemia.
|
16980411 |
2006 |
|
Congenital neutropenia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We studied 14 individuals (four patients with SCN and ten close relatives) belonging to the original Kostmann family in northern Sweden for mutations in the ELA-2 and the granulocyte colony-stimulating factor (G-CSF) receptor genes.
|
16670064 |
2006 |
|
Congenital neutropenia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Patients with Kostmann syndrome (severe congenital neutropenia [SCN]) typically normalize their absolute neutrophil count (ANC) upon granulocyte colony-stimulating factor (G-CSF) therapy.
|
16584360 |
2006 |
|
Congenital neutropenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Data on more than 600 patients with CN collected by the Severe Chronic Neutropenia International Registry (SCNIR) demonstrate that, regardless of the particular CN subtype, more than 95% of these patients respond to recombinant human (rHu)G-CSF with ANCs that can be maintained above 1.0 x 10(9)/L.
|
16822461 |
2006 |
|
Congenital neutropenia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
A novel mutation in the juxtamembrane intracellular sequence of the granulocyte colony-stimulating factor (G-CSF) receptor gene in a patient with severe congenital neutropenia augments GCSF proliferation activity but not through the MAP kinase cascade.
|
16229088 |
2005 |