Defective G-CSFR signaling pathways in congenital neutropenia

J Skokowa, K Welte - Hematology/Oncology Clinics, 2013 - hemonc.theclinics.com
Granulocyte colony-stimulating factor (G-CSF) receptor (G-CSFR) activation with ligand
binding induces myeloid cell proliferation, survival, and differentiation. 1 Acquired somatic …

[HTML][HTML] Extended genetic testing in severe congenital neutropenia may identify mutations that inform therapy

DC Link, V Makaryan, DH Spencer, J Xia, AA Bolyard… - Blood, 2018 - Elsevier
Abstract The Severe Chronic Neutropenia International Registry (SCNIR) in cooperation
with Washington University has developed a next-generation sequencing assay for the …

Studies of granulocyte colony stimulating factor signaling to develop tools for clinical assessments of severe congenital neutropenia

M Lundberg - 2023 - bora.uib.no
Neutropenia is condition characterized by low number of neutrophils in circulation. This
leads to an increased risk of infections and is often diagnosed early in life. Extreme cases …

[HTML][HTML] A Next-Generation Sequencing Test for Severe Congenital Neutropenia: Utility in a Broader Clinicopathologic Spectrum of Disease

SN McNulty, MJ Evenson, M Riley, JM Yoest… - The Journal of Molecular …, 2021 - Elsevier
Severe congenital neutropenia (SCN) is a collection of diverse disorders characterized by
chronically low absolute neutrophil count in the peripheral blood, increased susceptibility to …

Congenital neutropenia patient with hypomorphic biallelic CSF3R mutation responding to GCSF

DY Karapinar, B Akinci, AS Yasar… - Journal of Pediatric …, 2019 - journals.lww.com
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 …

Severe congenital neutropenia: abnormal growth and differentiation of myeloid progenitors to granulocyte colony-stimulating factor (G-CSF) but normal response to G …

K Hestdal, K Welte, SO Lie, JR Keller, FW Ruscetti… - 1993 - ashpublications.org
Several mechanisms have been proposed to explain the pathogenesis of severe congenital
neutropenia (SCN); however, the mechanism (s) still remains unknown. In particular, clinical …

Congenital neutropenias

C Zeidler, B Schwinzer, K Welte - Reviews in clinical and …, 2003 - pubmed.ncbi.nlm.nih.gov
The term congenital neutropenia (CN) has been used for a group of hematologic disorders
characterized by severe neutropenia with absolute neutrophil counts (ANC) below 0.5 x 10 …

Defective proliferation of primitive myeloid progenitor cells in patients with severe congenital neutropenia

N Konishi, M Kobayashi, S Miyagawa… - Blood, The Journal …, 1999 - ashpublications.org
Although several mechanisms have been proposed to explain the pathophysiology of
severe congenital neutropenia (SCN), the precise defect responsible for SCN remains …

Granulocyte colony-stimulating factor receptor signaling: implications for G-CSF responses and leukemic progression in severe congenital neutropenia

IP Touw, K Palande… - Hematology/Oncology …, 2013 - hemonc.theclinics.com
Hematol Oncol Clin N Am 27 (2013) 61–73 http://dx. doi. org/10.1016/j. hoc. 2012.10. 002
hemonc. theclinics. com 0889-8588/13/$–see front matter© 2013 Elsevier Inc. All rights …

Reduced toxicity matched sibling bone marrow transplant results in excellent outcomes for severe congenital neutropenia

JH Oved, NM Gibson, K Venella, CW Elgarten… - Frontiers in …, 2024 - frontiersin.org
Severe congenital neutropenia (SCN) is caused by germline mutations, most commonly in
ELANE, impacting neutrophil maturation and leading to high risk of life-threatening …