Genetics and pathophysiology of severe congenital neutropenias (SCNs)

نویسندگان
Yousefi, Amir-Mohammad ID 1
Faranoush, Mohammad ID 2
Keikhaei, Bijan ID 3
Eghbali, Aziz ID 4
Shamsian, Bibi Shahin ID 5
Abdolkarimi, Babak ID 6
Haghi, Sabahat ID 7
Abolghasemi, Hassan ID 8
Younesian, Samareh ID 9
Eshghi, Peyman ID 10
Faranoush, Pooya ID 11
Bashash, Davood ID 12

1 Department of Hematology and Blood Banking, School of Allied Medical Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

2 Pediatric Growth and Development Research Center, Iran University of Medical Sciences, Tehran, Iran

3 Thalassemia and Hemoglobinopathy Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran

4 Clinical Research Development Center of Aliasghar Hospital, Iran University of Medical Sciences, Tehran, Iran

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

6 Department of Pediatrics, School of Medicine, Lorestan University of Medical Sciences, Khorramabad, Iran

7 Department of Pediatrics, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran

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

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

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

11 Pediatric Growth and Development Research center, Institute of Endocrinology Iran University of Medical Sciences Tehran Iran

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

doi
10.58209/ijbc.15.2.146
چکیده

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 ...

کلیدواژه‌ها
Neutropenia, Severe congenital neutropenia, Kostmann syndrome, ELANE, HAX1