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Letters to the Editor
sequencing and performed variant interpretation; VM-E, FB, JD and CB-C analyzed the data and wrote the manuscript which was reviewed and edited by all authors.
Acknowledgments: the authors would like to thank the families involved in the study. They thank the IPSIT “Ingénierie et Plateformes au Service de l’Innovation Thérapeutique” Laboratory and, especially, Mrs M.-L. Aknin for her support with flow-cytometry analysis (PLAIMMO platform).
Funding: the French Severe Chronic Neutropenia Registry is sup- ported by grants from X4 Pharma, Prolong Pharma and Chugai SA (B. Beaupain, J. Donadieu). This work was also funded by the Association Laurette Fugain and the CEREDIH.
Data-sharing statement: technical information is available on request in order to assist other laboratories with characterization of CXCR2 variants.
References
1. Martin C, Burdon PC, Bridger G, Gutierrez-Ramos JC, Williams TJ, Rankin SM. Chemokines acting via CXCR2 and CXCR4 control the release of neutrophils from the bone marrow and their return follow- ing senescence. Immunity. 2003;19(4):583-593.
2.Eash KJ, Greenbaum AM, Gopalan PK, Link DC. CXCR2 and CXCR4 antagonistically regulate neutrophil trafficking from murine bone marrow. J Clin Invest. 2010;120(7):2423-2431.
3. Hernandez PA, Gorlin RJ, Lukens JN, et al. Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syn- drome, a combined immunodeficiency disease. Nat Genet. 2003;34(1):70-74.
4. Auer PL, Teumer A, Schick U, et al. Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematologi-
cal traits. Nat Genet. 2014;46(6):629-634.
5.Bohinjec J. Myelokathexis: chronic neutropenia with hyperplastic
bone marrow and hypersegmented neutrophils in two siblings. Blut.
1981;42(3):191-196.
6. Heusinkveld LE, Majumdar S, Gao J-L, McDermott DH, Murphy
PM. WHIM syndrome: from pathogenesis towards personalized
medicine and cure. J Clin Immunol. 2019;39(6):532-556.
7. Rovati GE, Capra V, Neubig RR. The highly conserved DRY motif of class A G protein-coupled receptors: beyond the ground state. Mol
Pharmacol. 2007;71(4):959-964.
8. Liu K, Wu L, Yuan S, et al. Structural basis of CXC chemokine recep-
tor 2 activation and signalling. Nature. 2020;585(7823):135-140.
9. Honczarenko M, Douglas RS, Mathias C, Lee B, Ratajczak MZ, Silberstein LE. SDF-1 responsiveness does not correlate with CXCR4 expression levels of developing human bone marrow B cells. Blood.
1999;94(9):2990-2998.
10. Richardson RM, Pridgen BC, Haribabu B, Ali H, Snyderman R.
Differential cross-regulation of the human chemokine receptors CXCR1 and CXCR2. Evidence for time-dependent signal generation. J Biol Chem. 1998;273(37):23830-23836.
11. Nasser MW, Raghuwanshi SK, Grant DJ, Jala VR, Rajarathnam K, Richardson RM. Differential activation and regulation of CXCR1 and CXCR2 by CXCL8 monomer and dimer. J Immunol. 2009;183(5):3425-3432.
12.Petri B, Sanz MJ. Neutrophil chemotaxis. Cell Tissue Res. 2018;371:425-436.
13. Cacalano G, Lee J, Kikly K, et al. Neutrophil and B cell expansion in mice that lack the murine IL-8 receptor homolog. Science. 1994;265(5172):682-684.
14. Broxmeyer HE, Cooper S, Cacalano G, Hague NL, Bailish E, Moore MW. Involvement of interleukin (IL) 8 receptor in negative regulation of myeloid progenitor cells in vivo: evidence from mice lacking the murine IL-8 receptor homologue. J Exp Med. 1996;184(5):1825-1832.
15. Beaussant Cohen S, Fenneteau O, Plouvier E, et al. Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry. Orphanet J Rare Dis. 2012;7:71.
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