Impact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia

X Meng, H Zhang, L Dong, Q Min, M Yu, Y Li, L Liu… - Blood Advances, 2024 - Elsevier
Congenital neutropenia (CN) is a genetic disorder characterized by persistent or intermittent
low peripheral neutrophil counts, thus increasing susceptibility to bacterial and fungal …

[HTML][HTML] Response to high dose G-CSF treatment (20µg/kg/d or higher) of patients with congenital neutropenia: An analysis by the scnir in Europe

C Zeidler, N Gerschmann, S Mellor-Heineke… - Blood, 2019 - Elsevier
Background: Congenital neutropenia (CN) is a group of rare inborn genetic disorders of
hematopoiesis including a variety of different gene mutations and different patterns of …

Severe congenital neutropenia

K Welte, C Zeidler, DC Dale - Seminars in hematology, 2006 - Elsevier
Severe congenital neutropenia (CN) includes a variety of hematologic disorders
characterized by severe neutropenia, with absolute neutrophil counts (ANC) below 0.5× …

[HTML][HTML] Combined corticosteroid/granulocyte colony-stimulating factor (G-CSF) therapy in the treatment of severe congenital neutropenia unresponsive to G-CSF …

Y Dror, AC Ward, IP Touw, MH Freedman - Experimental hematology, 2000 - Elsevier
OBJECTIVE: More than 90% of patients with severe congenital neutropenia (SCN) respond
to granulocyte colony-stimulating factor (G-CSF) therapy. The basis for the refractory state in …

Game of clones: the genomic evolution of severe congenital neutropenia

IP Touw - Hematology 2014, the American Society of …, 2015 - ashpublications.org
Severe congenital neutropenia (SCN) is a genetically heterogeneous condition of bone
marrow failure usually diagnosed in early childhood and characterized by a chronic and …

Novel genetic etiologies of severe congenital neutropenia

K Boztug, C Klein - Current opinion in immunology, 2009 - Elsevier
Severe congenital neutropenia (SCN) comprises a heterogenous group of primary
immunodeficiency disorders collectively characterized by paucity of mature neutrophils. In …

Novel mechanism of G-CSF refractoriness in patients with severe congenital neutropenia

LJ Druhan, J Ai, P Massullo, T Kindwall-Keller… - Blood, 2005 - ashpublications.org
Severe congenital neutropenia (SCN) is a rare disease diagnosed at or soon after birth,
characterized by a myeloid maturation arrest in the bone marrow, ineffective neutrophil …

[HTML][HTML] Congenital neutropenia: from lab bench to clinic bedside and back

W Dobrewa, M Bielska, K Bąbol-Pokora… - … Research/Reviews in …, 2023 - Elsevier
Neutropenia is a hematological condition characterized by a decrease in absolute
neutrophil count (ANC) in peripheral blood, typically classified in adults as mild (1-1.5× 10 …

Severe congenital neutropenia terminating in acute myeloid leukemia: disease progression associated with mutations in the granulocyte-colony stimulating factor …

IP Touw, F Dong - Leukemia research, 1996 - Elsevier
Severe congenital neutropenia (SCN) is a heterogeneous disease condition with a variable
family history and a propensity to progress towards myelodysplastic syndrome (MDS) and …

[HTML][HTML] Effects of CSF3R mutations on myeloid differentiation and proliferation of hematopoietic cells of congenital neutropenia patients

M Klimiankou, B Dannenmann, A Solovyeva… - Blood, 2017 - Elsevier
Over the last 25 years, with the clinical approval of recombinant human granulocyte colony-
stimulating factor (rhG-CSF) remarkable progress has been achieved in the therapy of …