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Iranian Journal of Blood and Cancer، جلد ۱۵، شماره ۲، صفحات ۱۴۶-۱۷۱

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عنوان انگلیسی Genetics and pathophysiology of severe congenital neutropenias (SCNs)
چکیده انگلیسی مقاله 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 life-threatening 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 SCN-associated 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.  
کلیدواژه‌های انگلیسی مقاله Neutropenia, Severe congenital neutropenia, Kostmann syndrome, ELANE, HAX1

نویسندگان مقاله | Samareh Younesian
Department of Hematology and Blood Banking, School of Allied Medical Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran


| Amir-Mohammad Yousefi
Department of Hematology and Blood Banking, School of Allied Medical Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran


| Peyman Eshghi
Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran


| Mohammad Faranoush
Pediatric Growth and Development Research Center, Iran University of Medical Sciences, Tehran, Iran


| Pooya Faranoush
Pediatric Growth and Development Research center, Institute of Endocrinology, Iran University of Medical Sciences, Tehran, Iran


| Bijan Keikhaei
Thalassemia and Hemoglobinopathy Research Center, Health Research Institute, Ahvaz Jundishapur, University of Medical Sciences, Ahvaz, Iran


| Aziz Eghbali
Clinical Research Development Center of Aliasghar Hospital, Iran University of Medical Sciences, Tehran, Iran


| Bibi Shahin Shamsian
Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran


| Babak Abdolkarimi
Department of Pediatrics, School of Medicine, Lorestan University of Medical Sciences, Khorramabad, Iran


| Sabahat Haghi
Department of Pediatrics, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran


| Hassan Abolghasemi
Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran


| Davood Bashash
Department of Hematology and Blood Banking, School of Allied Medical Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran



نشانی اینترنتی http://ijbc.ir/browse.php?a_code=A-10-992-1&slc_lang=en&sid=1
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کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده Pediatric Hematology & Oncology
نوع مقاله منتشر شده مقاله مروری
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