A novel transmembrane CXCR4 variant that expands the WHIM genotype-phenotype paradigm

Author:

Zmajkovicova Katarina1ORCID,Pawar Sumit2,Sharapova Svetlana O.3ORCID,Geier Christoph B.45ORCID,Wiest Ivana2,Nguyen Chi1,Monticelli Halenya1ORCID,Maier-Munsa Sabine2,Chen Kelly6,Sleasman John W.7,Aleshkevich Svetlana3,Polyakova Ekaterina3ORCID,Sakovich Inga3,Warnatz Klaus45ORCID,Grimbacher Bodo45ORCID,Proietti Michele89,Sondheimer Neal10,Ujhazi Boglarka11,Gordon Sumai11,Ellison Maryssa11,Yilmaz Melis1112ORCID,Walter Jolan E.111213ORCID,Badarau Adriana2,Taveras Arthur G.6,Neff Jadee L.14ORCID,Bledsoe Jacob R.15ORCID,Tarrant Teresa K.1617ORCID

Affiliation:

1. 1X4 Pharmaceuticals (Austria) GmbH, Vienna, Austria

2. 2Formerly X4 Pharmaceuticals (Austria) GmbH, Vienna, Austria

3. 3Research Department, Belarusian Research Center for Pediatric Oncology, Hematology, and Immunology, Minsk, Belarus

4. 4Department of Rheumatology and Clinical Immunology, University Medical Center Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany

5. 5Center for Chronic Immunodeficiency, University Medical Center Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany

6. 6X4 Pharmaceuticals, Boston, MA

7. 7Division of Allergy, Immunology, Department of Pediatrics, Duke University School of Medicine, Durham, NC

8. 8Department of Rheumatology and Clinical Immunology, Hannover Medical School, Hannover, Germany

9. 9RESIST-Cluster of Excellence 2155, Hannover Medical School, Hannover, Germany

10. 10Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada

11. 11Division of Allergy and Immunology, Department of Medicine, Johns Hopkins All Children's Hospital, St Petersburg, FL

12. 12Division of Allergy & Immunology, Department of Pediatrics, Morsani College of Medicine, University of South Florida, Tampa, FL

13. 13Division of Allergy and Immunology, Massachusetts General Hospital for Children, Boston, MA

14. 14Division of Hematopathology, Department of Pathology, Duke University, Durham, NC

15. 15Department of Pathology, Boston Children’s Hospital, Boston, MA

16. 16Division of Rheumatology and Immunology, Department of Medicine, Duke University, Durham, NC

17. 17Durham Veterans Affairs Medical Center, Durham, NC

Publisher

American Society of Hematology

Cited by 1 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. The complex nature of CXCR4 mutations in WHIM syndrome;Frontiers in Immunology;2024-07-05

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