Volume 15, Issue 2 ( June 2023 2023)                   Iranian Journal of Blood and Cancer 2023, 15(2): 146-171 | Back to browse issues page


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Younesian S, Yousefi A, Eshghi P, Faranoush M, Faranoush P, Keikhaei B, et al . Genetics and pathophysiology of severe congenital neutropenias (SCNs). Iranian Journal of Blood and Cancer 2023; 15 (2) :146-171
URL: http://ijbc.ir/article-1-1394-en.html
1- Department of Hematology and Blood Banking, School of Allied Medical Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran
2- Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran
3- Pediatric Growth and Development Research Center, Iran University of Medical Sciences, Tehran, Iran
4- Pediatric Growth and Development Research center, Institute of Endocrinology, Iran University of Medical Sciences, Tehran, Iran
5- Thalassemia and Hemoglobinopathy Research Center, Health Research Institute, Ahvaz Jundishapur, University of Medical Sciences, Ahvaz, Iran
6- Clinical Research Development Center of Aliasghar Hospital, Iran University of Medical Sciences, Tehran, Iran
7- Department of Pediatrics, School of Medicine, Lorestan University of Medical Sciences, Khorramabad, Iran
8- Department of Pediatrics, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran
9- Department of Hematology and Blood Banking, School of Allied Medical Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran , david_5980@yahoo.com
Abstract:   (1195 Views)

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.

 

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: Review Article | Subject: Pediatric Hematology & Oncology
Received: 2023/04/24 | Accepted: 2023/06/18 | Published: 2023/06/29

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