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

Autor: Zmajkovicova K; X4 Pharmaceuticals (Austria) GmbH, Vienna, Austria., Pawar S; Formerly X4 Pharmaceuticals (Austria) GmbH, Vienna, Austria., Sharapova SO; Research Department, Belarusian Research Center for Pediatric Oncology, Hematology, and Immunology, Minsk, Belarus., Geier CB; Department of Rheumatology and Clinical Immunology, University Medical Center Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Center for Chronic Immunodeficiency, University Medical Center Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Wiest I; Formerly X4 Pharmaceuticals (Austria) GmbH, Vienna, Austria., Nguyen C; X4 Pharmaceuticals (Austria) GmbH, Vienna, Austria., Monticelli H; X4 Pharmaceuticals (Austria) GmbH, Vienna, Austria., Maier-Munsa S; Formerly X4 Pharmaceuticals (Austria) GmbH, Vienna, Austria., Chen K; X4 Pharmaceuticals, Boston, MA., Sleasman JW; Division of Allergy, Immunology, Department of Pediatrics, Duke University School of Medicine, Durham, NC., Aleshkevich S; Research Department, Belarusian Research Center for Pediatric Oncology, Hematology, and Immunology, Minsk, Belarus., Polyakova E; Research Department, Belarusian Research Center for Pediatric Oncology, Hematology, and Immunology, Minsk, Belarus., Sakovich I; Research Department, Belarusian Research Center for Pediatric Oncology, Hematology, and Immunology, Minsk, Belarus., Warnatz K; Department of Rheumatology and Clinical Immunology, University Medical Center Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Center for Chronic Immunodeficiency, University Medical Center Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Grimbacher B; Department of Rheumatology and Clinical Immunology, University Medical Center Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Center for Chronic Immunodeficiency, University Medical Center Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Proietti M; Department of Rheumatology and Clinical Immunology, Hannover Medical School, Hannover, Germany.; RESIST-Cluster of Excellence 2155, Hannover Medical School, Hannover, Germany., Sondheimer N; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Ujhazi B; Division of Allergy and Immunology, Department of Medicine, Johns Hopkins All Children's Hospital, St Petersburg, FL., Gordon S; Division of Allergy and Immunology, Department of Medicine, Johns Hopkins All Children's Hospital, St Petersburg, FL., Ellison M; Division of Allergy and Immunology, Department of Medicine, Johns Hopkins All Children's Hospital, St Petersburg, FL., Yilmaz M; Division of Allergy and Immunology, Department of Medicine, Johns Hopkins All Children's Hospital, St Petersburg, FL.; Division of Allergy & Immunology, Department of Pediatrics, Morsani College of Medicine, University of South Florida, Tampa, FL., Walter JE; Division of Allergy and Immunology, Department of Medicine, Johns Hopkins All Children's Hospital, St Petersburg, FL.; Division of Allergy & Immunology, Department of Pediatrics, Morsani College of Medicine, University of South Florida, Tampa, FL.; Division of Allergy and Immunology, Massachusetts General Hospital for Children, Boston, MA., Badarau A; Formerly X4 Pharmaceuticals (Austria) GmbH, Vienna, Austria., Taveras AG; X4 Pharmaceuticals, Boston, MA., Neff JL; Division of Hematopathology, Department of Pathology, Duke University, Durham, NC., Bledsoe JR; Department of Pathology, Boston Children's Hospital, Boston, MA., Tarrant TK; Division of Rheumatology and Immunology, Department of Medicine, Duke University, Durham, NC.; Durham Veterans Affairs Medical Center, Durham, NC.

Publikováno v: Blood advances [Blood Adv] 2024 Jul 23; Vol. 8 (14), pp. 3754-3759.

P1253: MAVORIXAFOR DISRUPTS THE CROSS TALK BETWEEN WALDENSTRÖM'S MACROGLOBULINEMIA CELLS AND THE BONE MARROW MICROENVIRONMENT RESULTING IN ENHANCED SENSITIVITY TO B‐CELL TARGETED THERAPIES.

Autor: Monticelli, H., Kruitwagen, T., Tardelli, M., Rebelo, T., Maierhofer, B., Maier‐Munsa, S., Zmajkovicova, K., Taveras, A. G., Nguyen, C.

Publikováno v: HemaSphere; 2022 Supplement 3, Vol. 6, p1138-1139, 2p

P792: CRISPR/CAS9‐BASED MODEL OF HETEROZYGOUS CXCR4 WT/R334X MUTATION TO STUDY CELLULAR PHENOTYPES IN WHIM SYNDROME.

Autor: Zmajkovicova, K., Pawar, S., Maier‐Munsa, S., Badarau, A., Taveras, A. G.

Publikováno v: HemaSphere; 2022 Supplement 3, Vol. 6, p687-688, 2p

Heterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4^V340fs gain-of-function mutation.

Autor: Huang, Yu, Li, Lu, Chen, Ran, Yu, Lang, Zhao, Shunkai, Jia, Yanjun, Dou, Ying, Zhang, Zhiyong, An, Yunfei, Tang, Xuemei, Zhao, Xiaodong, Zhou, Lina

Publikováno v: Frontiers in Immunology; 2024, p1-16, 16p

The complex nature of CXCR4 mutations in WHIM syndrome.

Autor: Miguel Rodríguez-Frade, José, Ignacio González-Granado, Luis, Santiago, César A., Mellado, Mario

Publikováno v: Frontiers in Immunology; 2024, p1-13, 13p