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

Evelien G G Sprenkeler; Anton T J Tool; Iris C Kreft; Floris P J van Alphen; NBR-RD PID Consortium, NIHR BioResource; Suranjith L Seneviratne; Jesmeen Maimaris; Asad Luqmani; Karin van Leeuwen; Robin van Bruggen; Siobhan O Burns; Taco W Kuijpers

doi:10.1111/bjh.17081

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

Br J Haematol. 2020 Dec;191(5):930-934. doi: 10.1111/bjh.17081. Epub 2020 Sep 23.

Affiliations

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 Hospital, AUMC, University 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 NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.
⁶ Department of Immunology, Royal Free London NHS Foundation Trust, University College London, Institute of Immunity and Transplantation, London, United Kingdom.
⁷ Infection, Immunity and Inflammation Theme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
⁸ Department of Haematology, Imperial College NHS Trust, Hammersmith Hospital, London, United Kingdom.

PMID: 32966608
DOI: 10.1111/bjh.17081

No abstract available

Keywords: congenital neutropenia; granulocyte colony-stimulating factor; granulocyte colony-stimulating factor receptor; neutrophils; primary immunodeficiency.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Female
Humans
Loss of Function Mutation*
Male
Neutropenia / genetics*
Neutrophils*
Pedigree*
Receptors, Colony-Stimulating Factor / genetics*

Substances

CSF3R protein, human
Receptors, Colony-Stimulating Factor

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

Authors

Affiliations

Publication types

MeSH terms

Substances

Grants and funding