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The patient's bone marrow shows lagging neutrophil development with subtle left shift and unresponsiveness to CSF3 in in vitro colony assays. This patient illustrates that the di\u2010proline hinge motif in the extracellular cytokine receptor homology domain of CSF3R is critical for adequate neutrophil production, but dispensable for in vivo terminal neutrophil maturation. This report underscores that CN patients with inherited <jats:italic>CSF3R<\/jats:italic> mutations should be marked as a separate clinical entity, characterized by a failure to respond to CSF3.<\/jats:p>","DOI":"10.1002\/pbc.30039","type":"journal-article","created":{"date-parts":[[2022,11,1]],"date-time":"2022-11-01T04:51:02Z","timestamp":1667278262000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A congenital <i>CSF3R<\/i> mutation in chronic neutropenia reveals a vital role for a cytokine receptor extracellular hinge motif in the response to granulocyte colony\u2010stimulating factor"],"prefix":"10.1002","volume":"70","author":[{"given":"Jacqueline","family":"Feyen","sequence":"first","affiliation":[{"name":"Department of Hematology Erasmus MC Cancer Institute  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martijn P. T.","family":"Ernst","sequence":"additional","affiliation":[{"name":"Department of Hematology Erasmus MC Cancer Institute  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent H. J.","family":"van der Velden","sequence":"additional","affiliation":[{"name":"Department of Immunology Erasmus MC  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter J. 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