Loss‐of‐function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees-Reference-Cited by-同舟云学术

Loss‐of‐function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees

Published:2020-09-23 Issue:5 Volume:191 Page:930-934
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br. J. Haematol.

Author:

Sprenkeler Evelien G. G.¹²^ORCID,Tool Anton T. J.¹,Kreft Iris C.³,Alphen Floris P. J.⁴,Seneviratne Suranjith L.⁵,Maimaris Jesmeen⁶,Luqmani Asad⁷,Leeuwen Karin⁴,Bruggen Robin¹,Burns Siobhan O.⁵,Kuijpers Taco W.¹²,

Affiliation:

1. Department of Blood Cell Research Sanquin Research Amsterdam University Medical Center (AUMC)University of Amsterdam Amsterdam The Netherlands

2. Department of Pediatric Immunology, Rheumatology and Infectious Diseases Emma Children’s HospitalAUMCUniversity of Amsterdam Amsterdam The Netherlands

3. Department of Molecular and Cellular Hemostasis Sanquin Research Amsterdam The Netherlands

4. Department of Research facilities Sanquin Research Amsterdam The Netherlands

5. Department of Immunology Royal Free London NHS Foundation TrustUniversity College LondonInstitute of Immunity and Transplantation London United Kingdom

6. Infection, Immunity and Inflammation Theme UCL Great Ormond Street Institute of Child Health London United Kingdom

7. Department of Haematology Imperial College NHS TrustHammersmith Hospital London United Kingdom

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.17081

Reference16 articles.

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3. Novel Point Mutation in the Extracellular Domain of the Granulocyte Colony-Stimulating Factor (G-Csf) Receptor in a Case of Severe Congenital Neutropenia Hyporesponsive to G-Csf Treatment

4. Combined corticosteroid/granulocyte colony-stimulating factor (G-CSF) therapy in the treatment of severe congenital neutropenia unresponsive to G-CSF

5. Deletional Mutation of the External Domain of the Human Granulocyte Colony-Stimulating Factor Receptor in a Patient With Severe Chronic Neutropenia Refractory to Granulocyte Colony-Stimulating Factor

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1. A congenital CSF3R mutation in chronic neutropenia reveals a vital role for a cytokine receptor extracellular hinge motif in the response to granulocyte colony‐stimulating factor;Pediatric Blood & Cancer;2022-10-31

2. Leukaemic evolution of rare donor CSF3R germline mutation after umbilical cord blood transplant;British Journal of Haematology;2022-02-17

3. S100A8/A9 Is a Marker for the Release of Neutrophil Extracellular Traps and Induces Neutrophil Activation;Cells;2022-01-11

4. Efficacy of Low-Dose rhGM-CSF Treatment in a Patient With Severe Congenital Neutropenia Due to CSF3R Deficiency: Case Report of a Novel Biallelic CSF3R Mutation and Literature Review;Frontiers in Pediatrics;2021-10-29

5. G-CSF, the guardian of granulopoiesis;Seminars in Immunology;2021-04