[HTML][HTML] Improved survival from granulocyte-colony stimulating factor therapy for congenital neutropenia unmasks predisposition to myelodysplasia and acute myeloid …

MH Freedman, MA Bonilla, C Fier, AA Bolyard… - Pediatric …, 1999 - nature.com
25 Background: Over the last decade recombinant human granulocyte-colony stimulating
factor (G-CSF) has had a major impact on management of" severe chronic neutropenia", a …

Management of a patient with congenital biallelic CSF3R mutation with GM-CSF

DY Karapinar, HH Özdemir, B Akinci… - Journal of Pediatric …, 2020 - journals.lww.com
Abstract Severe Congenital Neutropenia (SCN) is a rare inherited disease characterized by
an absolute neutrophil count (ANC) lower than 500/μL. Genetic heterogeneity and biallelic …

Different pattern of gene mutations in Iranian patients with severe congenital neutropenia (including 2 new mutations)

Z Alizadeh, MR Fazlollahi, M Houshmand… - Iranian Journal of …, 2013 - ijaai.tums.ac.ir
Severe congenital neutropenia (SCN) is a rare primary immunodeficiency disease. Different
genes are found to be associated with SCN, including ELA2, HAX1, WAS, GFI1, G-CSFR …

Congenital neutropenia: disease models guiding new treatment strategies

IP Touw - Current Opinion in Hematology, 2022 - journals.lww.com
Congenital neutropenia: disease models guiding new treatment... : Current Opinion in
Hematology Congenital neutropenia: disease models guiding new treatment strategies : Current …

Severe congenital neutropenias and other rare inherited disorders with marrow failure

F Fioredda, P Farruggia, M Miano, C Dufour - Congenital and Acquired …, 2017 - Elsevier
Severe congenital neutropenia is a group of rare diseases, characterized by a severe
depletion of absolute neutrophil count which can be isolated or associated to …

[HTML][HTML] Heterozygous mutations of CLPB as a newly identified and frequent cause of severe congenital neutropenia

JT Warren, P Wattanasirakul, DH Spencer, A Locke… - Blood, 2019 - Elsevier
Severe congenital neutropenia (SCN) is an inborn disorder of granulopoiesis characterized
by severe chronic neutropenia from birth, premature death secondary to infectious …

Inherited biallelic CSF3R mutations in severe congenital neutropenia

A Triot, PM Järvinen, JI Arostegui… - Blood, The Journal …, 2014 - ashpublications.org
Severe congenital neutropenia (SCN) is characterized by low numbers of peripheral
neutrophil granulocytes and a predisposition to life-threatening bacterial infections. We …

G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending …

M Donini, S Fontana, G Savoldi… - Blood, The Journal …, 2007 - ashpublications.org
The treatment of children affected by severe congenital neutropenia (SCN) with G-CSF
strongly reduces the risk of sepsis by reversing neutropenia. However, SCN patients who …

In vitro functions of neutrophils induced by treatment with rhG‐CSF in severe congenital neutropenia

J Roesler, A Emmendörffer, J Eisner… - European journal of …, 1991 - Wiley Online Library
Neutrophils (and monocytes) from 5 patients suffering from severe congenital neutropenia
(SCN) were investigated in vitro after induction of this cell type by treatment with …

Severe congenital neutropenia: trends in diagnosis and therapy

C Zeidler, B Schwinzer, K Welte - Klinische Padiatrie, 2000 - europepmc.org
Severe congenital neutropenia (CN; Kostmann syndrome) is a hematologic disorder
characterized by a maturation arrest of myelopoiesis at the promyelocyte/myelocyte stage of …