en Pediatric Hematology & Oncology Pediatric Hematology & Oncology مقاله مروری Review Article <p style="text-align: justify;"><span style="line-height:2;"><span style="font-family:Arial;"><span style="font-size:14px;"><span new="" roman="" times="">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.</span><br> <br> &nbsp;</span></span></span></p> Neutropenia, Severe congenital neutropenia, Kostmann syndrome, ELANE, HAX1 146 171 http://ijbc.ir/browse.php?a_code=A-10-992-1&slc_lang=en&sid=1 Samareh Younesian samareyounesian@gmail.com 10031947532846009457 10031947532846009457 No Department of Hematology and Blood Banking, School of Allied Medical Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran Amir-Mohammad Yousefi amirmm.yousefi@yahoo.com 10031947532846009458 10031947532846009458 No Department of Hematology and Blood Banking, School of Allied Medical Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran Peyman Eshghi peyman64@yahoo.com 10031947532846009459 10031947532846009459 No Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran Mohammad Faranoush faranoush47@gmail.com 10031947532846009460 10031947532846009460 No Pediatric Growth and Development Research Center, Iran University of Medical Sciences, Tehran, Iran Pooya Faranoush 10031947532846009461 10031947532846009461 No Pediatric Growth and Development Research center, Institute of Endocrinology, Iran University of Medical Sciences, Tehran, Iran Bijan Keikhaei keikhaeib@yahoo.com 10031947532846009462 10031947532846009462 No Thalassemia and Hemoglobinopathy Research Center, Health Research Institute, Ahvaz Jundishapur, University of Medical Sciences, Ahvaz, Iran Aziz Eghbali aziz_eghbali@yahoo.com 10031947532846009463 10031947532846009463 No Clinical Research Development Center of Aliasghar Hospital, Iran University of Medical Sciences, Tehran, Iran Bibi Shahin Shamsian shahinshamsian@gmail.com 10031947532846009464 10031947532846009464 No Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran Babak Abdolkarimi b.abdolkarimi@yahoo.com 10031947532846009465 10031947532846009465 No Department of Pediatrics, School of Medicine, Lorestan University of Medical Sciences, Khorramabad, Iran Sabahat Haghi SabaHaghi@yahoo.com 10031947532846009466 10031947532846009466 No Department of Pediatrics, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran Hassan Abolghasemi h.abolghasemi.ha@gmail.com 10031947532846009467 10031947532846009467 No Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran Davood Bashash david_5980@yahoo.com 10031947532846009468 10031947532846009468 Yes Department of Hematology and Blood Banking, School of Allied Medical Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran