نتایج جستجو برای: severe congenital neutropenia
تعداد نتایج: 443969 فیلتر نتایج به سال:
PURPOSE OF REVIEW The purpose of this review is to summarize pathogenic mechanisms and clinical implications of the most illustrative genetic entities of congenital neutropenia syndromes. RECENT FINDINGS Congenital neutropenia comprise monogenetic entities with or without additional immunologic and extrahaematopoietic syndromatic features. Continuous careful explorations of known entities suc...
Severe congenital neutropenia (SCN) is a disorder of myelopoiesis characterized by severe neutropenia secondary to a maturational arrest at the level of promyelocytes. We treated five patients with SCN with recombinant human granulocyte-macrophage colony-stimulating factor (rhGM-CSF) for 42 days and subsequently, between 1 and 3 months later, with rhG-CSF for 142 days. The objective was to eval...
We studied granulocyte colony-stimulating factor (G-CSF) binding sites on neutrophils from patients with severe congenital neutropenia (SCN; Kostmann-syndrome) and cyclic neutropenia (CN) during treatment with recombinant human (rh) G-CSF. G-CSF receptor expression was measured by scatchard analysis. Neutrophils from six healthy controls expressed between 480 and 1,210 binding sites per cell, w...
Severe congenital neutropenia is a heterozygous group of bone marrow failure syndromes that cause lifelong infections. Mutation of the ELANE gene encoding human neutrophil elastase is the most common genetic alteration. A Korean female pediatric patient was admitted because of recurrent cervical lymphadenitis without abscess formation. She had a past history of omphalitis and isolated neutropen...
Severe congenital neutropenia (SCN) and cyclic neutropenia (CyN) are sporadic or inherited hematologic disorders of myelopoiesis. Heterozygous mutations in the gene encoding neutrophil elastase (ELA2) have been reported in both diseases. We used an inducible system to express a panel of ELA2 mutations and found for almost all mutants disruption of intracellular neutrophil elastase (HNE) protein...
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