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

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

Publikováno v: HemaSphere, Vol 6, Pp 687-688 (2022)

Externí odkaz: https://doaj.org/article/d83e560508a94dcf9c378a223de19651

Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients

Autor: Christoph B. Geier, Maryssa Ellison, Rachel Cruz, Sumit Pawar, Alexander Leiss-Piller, Katarina Zmajkovicova, Shannon M McNulty, Melis Yilmaz, Martin Oman Evans, Sumai Gordon, Boglarka Ujhazi, Ivana Wiest, Hassan Abolhassani, Asghar Aghamohammadi, Sara Barmettler, Saleh Bhar, Anastasia Bondarenko, Audrey Anna Bolyard, David Buchbinder, Michaela Cada, Mirta Cavieres, James A. Connelly, David C. Dale, Ekaterina Deordieva, Morna J. Dorsey, Simon B. Drysdale, Stephan Ehl, Reem Elfeky, Francesca Fioredda, Frank Firkin, Elizabeth Förster-Waldl, Bob Geng, Vera Goda, Luis Gonzalez-Granado, Eyal Grunebaum, Elzbieta Grzesk, Sarah E. Henrickson, Anna Hilfanova, Mitsuteru Hiwatari, Chihaya Imai, Winnie Ip, Soma Jyonouchi, Hirokazu Kanegane, Yuta Kawahara, Amer M. Khojah, Vy Hong-Diep Kim, Marina Kojić, Sylwia Kołtan, Gergely Krivan, Daman Langguth, Yu-Lung Lau, Daniel Leung, Maurizio Miano, Irina Mersyanova, Talal Mousallem, Mica Muskat, Flavio A. Naoum, Suzie A. Noronha, Monia Ouederni, Shuichi Ozono, G. Wendell Richmond, Inga Sakovich, Ulrich Salzer, Catharina Schuetz, Filiz Odabasi Seeborg, Svetlana O. Sharapova, Katja Sockel, Alla Volokha, Malte von Bonin, Klaus Warnatz, Oliver Wegehaupt, Geoffrey A. Weinberg, Ke-Juin Wong, Austen Worth, Huang Yu, Yulia Zharankova, Xiaodong Zhao, Lisa Devlin, Adriana Badarau, Krisztian Csomos, Marton Keszei, Joao Pereira, Arthur G Taveras, Sarah L. Beaussant-Cohen, Mei-Sing Ong, Anna Shcherbina, Jolan E. Walter

Publikováno v: Journal of Clinical Immunology. 42:1748-1765

Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome (WS) is a combined immunodeficiency caused by gain-of-function mutations in the C-X-C chemokine receptor type 4 (CXCR4) gene. We characterize a unique international cohort of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ec3dbe757488d15524fabc139819f46
https://doi.org/10.1007/s10875-022-01312-7

Abstract 5866: Mavorixafor enhances apoptosis of tumor cells treated with ibrutinib or venetoclax in diffuse large B-cell lymphoma, follicular lymphoma, mantle cell lymphoma, and chronic lymphocytic leukemia

Autor: Tom Kruitwagen, Thalia Martins Rebelo, Barbara Maierhofer, Gerwin Heller, Halenya Monticelli, Arthur G. Taveras, Chi Nguyen

Publikováno v: Cancer Research. 83:5866-5866

Despite advances in therapies for B-cell lymphoma, patients may still develop resistance and often relapse. Contributing factors may include interactions between lymphoma cells (LCs) or leukemia cells and bone marrow microenvironment (BMM). Overexpre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::30eac27a31d307ee9b8ccbeebf7025db
https://doi.org/10.1158/1538-7445.am2023-5866

Characterization of a Novel Missense CXCR4 Mutation in a Patient with WHIM-like Syndrome

Autor: Sumit Pawar, Christoph B. Geier, Sabine Maier-Munsa, Maryssa Ellison, Svetlana O. Sharapova, Chi Nguyen, Boglarka Ujhazi, Ivana Wiest, Neal Sondheimer, Arthur G. Taveras, Adriana Badarau, Jolan E. Walter, Halenya Monticelli, Katarina Zmajkovicova, Teresa K. Tarrant, Sumai Gordon

Publikováno v: Blood. 138:4309-4309

Background: WHIM (Warts, Hypogammaglobulinemia, Infections, Myelokathexis) syndrome is a rare primary immunodeficiency with a heterogeneous presentation of symptoms defining its acronym as well as panleukopenia. The majority of cases are inherited in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::292f03c0f0462ff7161a6ca280220a0d
https://doi.org/10.1182/blood-2021-153062

Oral Administration of Mavorixafor, a CXCR4 Antagonist, Increases Peripheral White Blood Cell Counts across Different Disease States

Autor: Steven P. Treon, Xia Luo, Diego Cadavid, Arthur G. Taveras, Honghua Jiang, Kelly Chen, David C. Dale, Varun Garg, Ashish A. Bhandari, Weihua Tang, J. Donadieu, David F. McDermott

Publikováno v: Blood. 138:2186-2186

Introduction: Peripheral leukocyte deficiency is a common feature of multiple diseases and may render affected individuals susceptible to infections, both common and opportunistic. The CXCR4 chemokine receptor regulates the trafficking of leukocytes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f1a1dacd5da2155764fc1735ff9c43ad
https://doi.org/10.1182/blood-2021-152990