The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy-Reference-Cited by-同舟云学术

The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy

Published:2013-06-20 Issue:25 Volume:121 Page:5078-5087
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Stepensky Polina¹,Saada Ann²,Cowan Marianne³,Tabib Adi⁴,Fischer Ute⁵,Berkun Yackov⁶,Saleh Hani⁷,Simanovsky Natalia⁸,Kogot-Levin Aviram²,Weintraub Michael¹,Ganaiem Hamam⁶,Shaag Avraham²,Zenvirt Shamir²,Borkhardt Arndt⁵,Elpeleg Orly²,Bryant Nia J.³,Mevorach Dror⁴

Affiliation:

1. Department of Pediatric Hematology-Oncology, and

2. Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel;

3. Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, United Kingdom;

4. Rheumatology Research Center and Department of Medicine, Hadassah, Hebrew University Medical Center, Jerusalem, Israel;

5. Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich Heine University, Düsseldorf, Germany;

6. Department of Pediatrics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel;

7. Pediatric Hemato-Oncology Unit, Augusta Victoria Hospital, Jerusalem; and

8. Department of Radiology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel

Abstract

Key Points VPS45 is a new gene associated with severe infections and bone marrow failure in infancy that can be treated by bone marrow transplantation. The mutation affects intracellular storage and transport and results in increased programmed cell death in neutrophils and bone marrow.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/121/25/5078/1367337/5078.pdf

Reference30 articles.

1. Congenital neutropenia.;Klein;Hematology (Am Soc Hematol Educ Program),2009

2. Familial myelofibrosis.;Sieff;Arch Dis Child,1980

3. Fatal familial infantile myelofibrosis.;Sheikha;J Pediatr Hematol Oncol,2004

4. Myelofibrosis with myeloid metaplasia.;Tefferi;N Engl J Med,2000

5. Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study.;Campbell;Lancet,2005

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