How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45-Reference-Cited by-同舟云学术

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How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45

Published:2018-10-07 Issue:1 Volume:66 Page:e27473
ISSN:1545-5009
Container-title:Pediatric Blood & Cancer
language:en
Short-container-title:Pediatr Blood Cancer

Author:

Shadur Bella¹²³,Asherie Nathalie¹,Newburger Peter E.⁴,Stepensky Polina¹

Affiliation:

1. Bone Marrow Transplantation Department; Hadassah-Hebrew University Medical Center; Jerusalem Israel

2. Immunology Division; Garvan Institute of Medical Research; Sydney Australia

3. Graduate Research School; University of New South Wales; Sydney Australia

4. Departments of Pediatrics & Molecular, Cell, and Cancer Biology; University of Massachusetts Medical School; Worcester Massachusetts

Funder

Australian Government

Deutsche Forschungsgemeinschaft (Discovery and Evaluation of New Combined Immunodeficiency Disease Entities

ERA-Net E-Rare Consortium EuroCID

National Institutes of Health

US Department of Defense

Publisher

Wiley

Subject

Oncology,Hematology,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/pbc.27473/fullpdf

Reference14 articles.

1. Stem cell transplantation in primary myelofibrosis of childhood;Mitton;J Pediatr Hematol Oncol.,2013

2. Clinical, histopathologic, and genetic features of pediatric primary myelofibrosis-an entity different from adults;DeLario;Am J Hematol,2012

3. Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.e238k mutation: a case report suggesting a genotype-phenotype correlation;Meerschaut;Am J Med Genet Part A,2015

4. A congenital neutrophil defect syndrome associated with mutations in VPS45;Vilboux;NEJM,2013

5. The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy;Stepensky;Blood,2013

Cited by 15 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Oral health management in children with severe congenital neutropenia with periodontitis: Case report;Medicine;2024-07-26

2. Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses;Journal of Clinical Pathology;2024-04-08

3. Successful Hematopoietic Cell Transplantation for Infantile Primary Myelofibrosis/VPS45 Deficiency: Case Report and Review of Literature;Journal of Clinical Immunology;2023-03-13

4. Pediatric myelofibrosis due to compound heterozygous MPIG6B mutations in a patient of European ancestry;Pediatric Blood & Cancer;2022-10-02

5. A novel MPIG6B gene mutation in an adolescent girl with congenital thrombocytopenia and myelofibrosis;Current Research in Translational Medicine;2022-09

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