Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia
نویسندگان
چکیده
منابع مشابه
A comparison of the defective granulopoiesis in childhood cyclic neutropenia and in severe congenital neutropenia.
BACKGROUND AND OBJECTIVES Cyclic neutropenia (CyN) in childhood and severe congenital neutropenia (SCN) are congenital disorders that cause chronic neutropenia. Mutations in the neutrophil elastase gene, ELA2, have been reported in patients with CyN and in those with SCN. We examined granulopoietic defects in CyN patients with those in SCN patients. DESIGN AND METHODS Three patients with CyN ...
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Introduction Neutropenia is defined in the literature as absolute neutrophil counts in peripheral blood of less than 1500 cells/mm3 in more than one year old and less than 2000cells/mm3 in children in the first year old of life. Neutropenia is classified as mild, moderate or severe, and may be congenital or acquired, persistent or not. Kostmann syndrome is a severe neutropenia, the incidence va...
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ژورنال
عنوان ژورنال: Journal of Allergy and Clinical Immunology
سال: 2020
ISSN: 0091-6749
DOI: 10.1016/j.jaci.2020.03.034