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

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

Evelien G G Sprenkeler  1   2 , Anton T J Tool  1 , Iris C Kreft  3 , Floris P J van Alphen  4 ; NBR-RD PID Consortium, NIHR BioResource  5 ; Suranjith L Seneviratne  6 , Jesmeen Maimaris  7 , Asad Luqmani  8 , Karin van Leeuwen  4 , Robin van Bruggen  1 , Siobhan O Burns  6 , Taco W Kuijpers  1   2
Affiliations
Case Reports

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

Evelien G G Sprenkeler et al. Br J Haematol. 2020 Dec.
No abstract available

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

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References

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    1. Dong F, Liu X, de Koning JP, Touw IP, Hennighausen L, Larner A, et al. Stimulation of Stat5 by granulocyte colony-stimulating factor (G-CSF) is modulated by two distinct cytoplasmic regions of the G-CSF receptor. J Immunol. 1998;161:6503-9.
    1. Ward AC, van Aesch YM, Gits J, Schelen AM, de Koning JP, van Leeuwen D, et al. 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. J Exp Med. 1999;190:497-507.
    1. Dror Y, Ward AC, Touw IP, Freedman MH. Combined corticosteroid/granulocyte colony-stimulating factor (G-CSF) therapy in the treatment of severe congenital neutropenia unresponsive to G-CSF: Activated glucocorticoid receptors synergize with G-CSF signals. Exp Hematol. 2000;28:1381-9.
    1. Sinha S, Zhu QS, Romero G, Corey SJ. 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. J Pediatr Hematol Oncol. 2003;25:791-6.

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