نتایج جستجو برای: severe congenital neutropenia

تعداد نتایج: 443969  

Journal: :The Israel Medical Association journal : IMAJ 2002
Melvin H Freedman Blanche P Alter

BACKGROUND Granulocyte colony-stimulating factor has had a major impact on the management of severe chronic neutropenia--a collective term referring to congenital, idiopathic, or cyclic neutropenia. Almost all patients respond to G-CSF with increased neutrophils, reduced infections, and improved survival. Some responders with congenital neutropenia (termed Kostmann's syndrome herein) and Shwach...

Journal: :Blood 2010
Renée Beekman Ivo P Touw

Granulocyte colony-stimulating factor (G-CSF) has been used in the clinic for more than 2 decades to treat congenital and acquired neutropenias and to reduce febrile neutropenia before or during courses of intensive cytoreductive therapy. In addition, healthy stem cell donors receive short-term treatment with G-CSF for mobilization of hematopoietic stem cells. G-CSF has also been applied in pri...

Journal: :Leukemia research 1996
I P Touw F Dong

Severe congenital neutropenia (SCN) is a heterogeneous disease condition with a variable family history and a propensity to progress towards myelodysplastic syndrome (MDS) and acute myeloblastic leukemia (AML). In a subgroup of patients, point mutations in the G-CSF-R gene have been found. These nonsense mutations result in the truncation of the C-terminal cytoplasmic region, a subdomain that i...

Journal: :Blood 2000
S Jeha K W Chan A G Aprikyan W K Hoots S Culbert H Zietz D C Dale M Albitar

Leukemia is observed with increased frequency in patients with severe congenital neutropenia (SCN). In the past decade, recombinant human granulocyte colony-stimulating factor (rh G-CSF) has prolonged the survival of patients with SCN increasingly reported to have leukemias. In this communication acute myelogenous leukemia (AML) associated with a mutation of the G-CSF receptor (G-CSF-R) develop...

Journal: :Blood 2013
Daniel C Link

Severe congenital neutropenia (SCN) is characterized by severe isolated neutropenia from birth, recurring bacterial infections, and a marked propensity to develop a myelodysplastic syndrome or acute myeloid leukemia. SCN is a genetically heterogeneous disorder (see figure). Mutations of ELANE encoding neutrophil elastase (NE) account for ;60% of cases (all in autosomal dominant or sporadic SCN)...

Journal: :iranian journal of blood and cancer 0
ghahramanfard f faranoush m ghorbani r rahbar m

background:chemotherapy-induced neutropenia as a major toxicity of systemic chemotherapy is commonly associated with substantial mortality and morbidity, and thus identifying its determinants is necessary. this study was undertaken to identify main risk factors of severe neutropenia following adjuvant chemotherapy treatment in a community-based population of patients with cancer in semnan, iran...

2016
Payel Sil

Granulocyte-Macrophage colony stimulating factor can salvage JAGN1 defect in bone marrow precursors causing congenital neutropenia. Neutrophils are the sentinel of host immune systems that are dispatched to surveil, engage and combat microbial pathogens. Neutropenic patients with low neutrophil counts are unable to mount neutrophil based immune responses and as a result become vulnerable to inf...

Journal: :Haematologica 2014
Tatsuya Morishima Ken-ichiro Watanabe Akira Niwa Hideyo Hirai Satoshi Saida Takayuki Tanaka Itaru Kato Katsutsugu Umeda Hidefumi Hiramatsu Megumu K Saito Kousaku Matsubara Souichi Adachi Masao Kobayashi Tatsutoshi Nakahata Toshio Heike

HAX1 was identified as the gene responsible for the autosomal recessive type of severe congenital neutropenia. However, the connection between mutations in the HAX1 gene and defective granulopoiesis in this disease has remained unclear, mainly due to the lack of a useful experimental model for this disease. In this study, we generated induced pluripotent stem cell lines from a patient presentin...

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