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Publikováno v:
Blood. 134:89-92
TO THE EDITOR: B1 cells were first described in 1983 as a rare B-lymphocyte subpopulation that spontaneously secreted immunoglobulin M (IgM) and appeared to be distinguished from B2 cells.[1][1] The functional properties, phenotype, and ontogeny of B
Autor:
Hartmut Döhner, Stephan Stilgenbauer, Sabrina Kugler, Eugen Tausch, Deyan Y. Yosifov, Johannes Bloehdorn, Mike-Andrew Westhoff, Michaela Reichenzeller, Franz Oswald, Daniel Mertens, Viola Close, William Close, Leiling Pan
Publikováno v:
Blood. 133:830-839
NOTCH1 is mutated in 10% of chronic lymphocytic leukemia (CLL) patients and is associated with poor outcome. However, NOTCH1 activation is identified in approximately one-half of CLL cases even in the absence of NOTCH1 mutations. Hence, there appear
Autor:
Shan Chi Yu, Janine Schmidt, Reiner Siebert, Joan Enric Ramis-Zaldivar, Itziar Salaverria, Elaine S. Jaffe, Inga Müller, Julia Steinhilber, Irina Bonzheim, Andrea Haake, Mark Raffeld, Falko Fend, Leticia Quintanilla-Martinez
Publikováno v:
Blood. 132:2687-2690
TO THE EDITOR: Follicular lymphoma (FL) is characterized by the t(14;18)(q32;q21) chromosomal translocation,[1][1] found in ∼85% of manifest FL (mFL) cases. The t(14;18) is also present in early precursor lesions of FL and in a significant fraction
Autor:
Alexander P.A. Stegmann, Bradleigh E. Navalsky, Albertine E. Donker, Richard van Wijk, Kai Peng, Wei Guan, Frank S. Lee, Daisheng Song, Margje Sinnema, Johanna W. H. Janssen
Publikováno v:
Blood, 132(13), 1455-1458. The American Society of Hematology
TO THE EDITOR: Mutations in the EGLN1 (also known as PHD2 ) gene are associated with erythrocytosis.[1][1] The encoded protein, PHD2, is a central cellular oxygen sensor that hydroxylates the α subunit of the hypoxia inducible factor (HIF) transcrip
Autor:
Junyan Lu, Hussein Ghamlouch, Brian Giacopelli, Camille Decaudin, Marine Armand, Thorsten Zenz, Florence Nguyen-Khac, Paresh Vyas, Christopher C. Oakes, Véronique Della-Valle, Marlen Metzner, Olivier Bernard, Magali Le Garff-Tavernier, Damien Roos-Weil, Veronique Leblond
Publikováno v:
Blood.
Epigenetic changes during B cell differentiation generates distinct DNA methylation signatures specific for B cell subsets, including memory B cells (MBCs) and plasma cells (PCs). Waldenström's macroglobulinemia (WM) is a complex B cell malignancy u
Autor:
Manuel Buscarlet, Yassamin Feroz Zada, Vincent Bourgoin, Lambert Busque, Sylvie Provost, Luigina Mollica, Marie-Pierre Dubé
Publikováno v:
Blood. 132:277-280
We analyzed DNA from PMN (granulocytes), CD14+ (monocytes), CD19+ (B-cells) and CD3+ (T-cells) of 107 individuals with clonal hematopoiesis of indeterminate potential (CHIP) to perform lineage restriction analysis of different gene mutations. Individ
Autor:
Sandrine Degryse, Simon Bornschein, Jean Soulier, Emilie Leroy, Ellen Geerdens, Marlies Vanden Bempt, Sofie Demeyer, Charles E. de Bock, Jan Cools, Kris Jacobs, Stefan N. Constantinescu, Olga Gielen, Christine J. Harrison
Publikováno v:
Blood, Vol. 131, no. 4, p. 421-425 (2018)
The Janus kinase 3 (JAK3) tyrosine kinase is mutated in 10% to 16% of T-cell acute lymphoblastic leukemia (T-ALL) cases. JAK3 mutants induce constitutive JAK/STAT signaling and cause leukemia when expressed in the bone marrow cells of mice. Surprisin
Autor:
Martin S. Tallman, Young Rock Chung, Omar Abdel-Wahab, Helen Won, James M Bogenberger, Raoul Tibes, Justin Taylor, Sasynia N Scott, Lu Wang, Stephen S. Chung, Thorsten Zenz, Jennifer Hüllein, Tatjana Walther, Sydney X. Lu, Torsten Haferlach, Jae H. Park, Bartlomiej Getta, Barry S. Taylor, Sascha Dietrich, Michael F. Berger, Christopher C. Oakes, Eunhee Kim, Benjamin H. Durham
Publikováno v:
ResearcherID
Classical hairy cell leukemia (cHCL) is characterized by a near 100% frequency of the BRAFV600E mutation, whereas ∼30% of variant HCLs (vHCLs) have MAP2K1 mutations. However, recurrent genetic alterations cooperating with BRAFV600E or MAP2K1 mutati
Autor:
David B. Lewis, Karthik Sreedhara, Constantine A. Stratakis, Mary Garofalo, Jennifer Stoddard, Julie E. Niemela, Michael Snyder, Sergio D. Rosenzweig, Jennifer Grossman, Jingga Inlora, Christian A. Wysocki, Hye Sun Kuehn, Thomas A. Fleisher, M. Teresa de la Morena
Publikováno v:
Blood. 130:1553-1564
NF-κB signaling through its NFKB1-dependent canonical and NFKB2-dependent noncanonical pathways plays distinctive roles in a diverse range of immune processes. Recently, mutations in these 2 genes have been associated with common variable immunodefi
Autor:
Taizo A. Nakano, Adrianna Vlachos, Maggie Malsch, Alyssa L. Kennedy, Shanshan Liu, David C. Dale, James A. Connelly, Nicholas D. Camarda, James Bowman, Nobuko Hijiya, Akiko Shimamura, R. Coleman Lindsley, Edie Weller, Scott L. Carter, Jeffrey H. Lipton, Kelly Walkovich, Inga Hofmann, Chad E. Harris, Robert Klein, Sioban Keel, Steffen Boettcher, John M. Gansner, Christian Brendel, James N. Huang, Kasiani C. Myers, Wendy Stock, Chris Bahl, Adam J. Lamble, Elissa M. Furutani, Maxim Norkin, Alison A. Bertuch, Ashley Galvin, Bonnie W. Lau, Christopher J. Gibson, Gwen M. Muscato, Richard H. Ho, Mark D. Fleming, Kaitlyn Ballotti, John R. Edwards, Stella M. Davies, Elliot Stieglitz, Paul Castillo
Publikováno v:
Blood. 136:35-36
Background: Shwachman-Diamond Syndrome (SDS) is a bone marrow failure disorder caused by impaired removal of EIF6 from the nascent 60S ribosome subunit, resulting in defective ribosome assembly. SDS patients have a high risk of myeloid neoplasms (MN)