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Genetics and pathophysiology of severe congenital neutropenias (SCNs)
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نویسنده
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younesian samareh ,yousefi amir-mohammad ,eshghi peyman ,faranoush mohammad ,faranoush pooya ,keikhaei bijan ,eghbali aziz ,shamsian bibi shahin ,abdolkarimi babak ,haghi sabahat ,abolghasemi hassan ,bashash davood
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منبع
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iranian journal of blood and cancer - 2023 - دوره : 15 - شماره : 2 - صفحه:146 -171
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چکیده
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Severe congenital neutropenias (scns) are the rare heterogenous group of preleukemia bone marrow failure syndromes characterized by impaired differentiation of neutrophilic granulocytes and, as a result, severe chronic neutropenia. patients with scn are predisposed to recurrent, often lifethreatening bacterial and/or fungal infections beginning in the first months of life. molecular abnormalities in 10 genes have been identified that are responsible for scns. the pathophysiological mechanisms of scns are the subject of extensive investigation and are not fully known. the current review aims to summarize the studies exploring the biological role of scnassociated genes and the effects of mutant genes in neutropenia pathogenesis. we mainly focus on the genetic mutations that lead to scn1 to scn9 and x-linked scn (xscn) to shed more light on the pathophysiology of these diseases.
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کلیدواژه
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Neutropenia ,Severe congenital neutropenia ,Kostmann disease ,ELANE ,HAX1
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آدرس
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shahid beheshti university of medical sciences, school of allied medical sciences, department of hematology and blood banking, Iran, shahid beheshti university of medical sciences, school of allied medical sciences, department of hematology and blood banking, Iran, shahid beheshti university of medical sciences, pediatric congenital hematologic disorders research center, research institute for children’s health, Iran, iran university of medical sciences, pediatric growth and development research center, Iran, iran university of medical sciences, pediatric growth and development research center, institute of endocrinology, Iran, ahvaz jundishapur, university of medical sciences, thalassemia and hemoglobinopathy research center, health research institute, Iran, iran university of medical sciences, clinical research development center of aliasghar hospital, Iran, shahid beheshti university of medical sciences, pediatric congenital hematologic disorders research center, research institute for children’s health, Iran, lorestan university of medical sciences, school of medicine, department of pediatrics, Iran, alborz university of medical sciences, school of medicine, department of pediatrics, Iran, shahid beheshti university of medical sciences, pediatric congenital hematologic disorders research center, research institute for children’s health, Iran, shahid beheshti university of medical sciences, school of allied medical sciences, department of hematology and blood banking, Iran
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Authors
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