Inherited biallelic CSF3R mutations in severe congenital neutropenia-Reference-Cited by-同舟云学术

Inherited biallelic CSF3R mutations in severe congenital neutropenia

Published:2014-06-12 Issue:24 Volume:123 Page:3811-3817
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Triot Alexa¹,Järvinen Päivi M.¹,Arostegui Juan I.²,Murugan Dhaarini¹,Kohistani Naschla¹,Dapena Díaz José Luis³,Racek Tomas¹,Puchałka Jacek¹,Gertz E. Michael⁴,Schäffer Alejandro A.⁴,Kotlarz Daniel¹,Pfeifer Dietmar⁵,Díaz de Heredia Rubio Cristina³,Ozdemir Mehmet Akif⁶,Patiroglu Turkan⁶,Karakukcu Musa⁶,Sánchez de Toledo Codina José³,Yagüe Jordi²,Touw Ivo P.⁷,Unal Ekrem⁶,Klein Christoph¹

Affiliation:

1. Department of Pediatrics, Division of Pediatric Hematology and Oncology, Dr von Hauner Children’s Hospital, Ludwig Maximilians University, Munich, Germany;

2. Immunology Department, Hospital Clínic, Barcelona, Spain;

3. Department of Pediatric Oncology-Hematology, Maternal-Infant Hospital Vall d’Hebron, Barcelona, Spain;

4. Computational Biology Branch, National Center for Biotechnology Information, National Institutes of Health, Bethesda, MD;

5. Department of Hematology, Oncology and Stem Cell Transplantation, University Medical Center, Freiburg, Germany;

6. Division of Pediatric Hematology and Oncology, Faculty of Medicine, Erciyes University, Kayseri, Turkey; and

7. Department of Hematology, Erasmus Medical Center, Rotterdam, The Netherlands

Abstract

Key Points Biallelic mutations in CSF3R must be considered as a novel genetic subtype in patients with congenital neutropenia. The p.Arg308Cys mutation in CSF3R leads to altered G-CSF receptor glycosylation and surface expression and abrogated downstream signaling.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/123/24/3811/1378076/3811.pdf

Reference38 articles.

1. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.;Horwitz;Nat Genet,1999

2. Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2.;Person;Nat Genet,2003

3. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).;Klein;Nat Genet,2007

4. A syndrome with congenital neutropenia and mutations in G6PC3.;Boztug;N Engl J Med,2009

5. A congenital neutrophil defect syndrome associated with mutations in VPS45.;Vilboux;N Engl J Med,2013

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