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1. Treosulfan compared to busulfan in allogeneic haematopoietic stem cell transplantation for myelofibrosis: a registry-based study from the Chronic Malignancies Working Party of the EBMT

Author

Robin, Marie, Iacobelli, Simona, Koster, Linda, Passweg, Jakob, Avenoso, Daniele, Wilson, Keith M. O., Salmenniemi, Urpu, Dreger, Peter, von dem Borne, Peter, Snowden, John A., Robinson, Stephen, Finazzi, Maria Chiara, Schroeder, Thomas, Collin, Matthew, Eder, Matthias, Forcade, Edouard, Loschi, Michael, Bramanti, Stefania, Pérez-Simón, Jose Antonio, Czerw, Tomasz, Polverelli, Nicola, Drozd-Sokolowska, Joanna, Raj, Kavita, Hernández-Boluda, Juan Carlos, and McLornan, Donal P.

Published
2024
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3. Allogeneic haematopoietic cell transplantation for therapy-related myeloid neoplasms arising following treatment for lymphoma: a retrospective study on behalf of the Chronic Malignancies Working Party of the EBMT

Author

Nabergoj, Mitja, Eikema, Diderik-Jan, Koster, Linda, Platzbecker, Uwe, Sockel, Katja, Finke, Jürgen, Kröger, Nicolaus, Forcade, Edouard, Nagler, Arnon, Eder, Matthias, Tischer, Johanna, Broers, Annoek E. C., Kuball, Jürgen, Wilson, Keith M. O., Hunault-Berger, Mathilde, Collin, Matthew, Russo, Domenico, Corral, Lucía López, Helbig, Grzegorz, Mussetti, Alberto, Scheid, Christof, Gurnari, Carmelo, Raj, Kavita, Drozd-Sokolowska, Joanna, Yakoub-Agha, Ibrahim, Robin, Marie, and McLornan, Donal P.

Published
2024
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4. Comparison of fludarabine/melphalan (FluMel) with fludarabine/melphalan/BCNU or thiotepa (FBM/FTM) in patients with AML in first complete remission undergoing allogeneic hematopoietic stem cell transplantation – a registry study on behalf of the EBMT Acute Leukemia Working Party

Author

Duque-Afonso, Jesús, Finke, Jürgen, Ngoya, Maud, Galimard, Jacques-Emmanuel, Craddock, Charles, Raj, Kavita, Bloor, Adrian, Nicholson, Emma, Eder, Matthias, Kim, Orchard, Valerius, Thomas, Snowden, John A., Tholouli, Eleni, Crawley, Charles, Collin, Matthew, Wilson, Keith M. O., Gadisseur, Alain, Protheroe, Rachel, Wagner-Drouet, Eva Maria, Savani, Bipin N., Spyridonidis, Alexandros, Ciceri, Fabio, Nagler, Arnon, and Mohty, Mohamad

Published
2024
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5. Correction: Treosulfan compared to busulfan in allogeneic haematopoietic stem cell transplantation for myelofibrosis: a registry-based study from the Chronic Malignancies Working Party of the EBMT

Author

Robin, Marie, Iacobelli, Simona, Koster, Linda, Passweg, Jakob, Avenoso, Daniele, Wilson, Keith M. O., Salmenniemi, Urpu, Dreger, Peter, von dem Borne, Peter, Snowden, John A., Robinson, Stephen, Finazzi, Maria Chiara, Schroeder, Thomas, Collin, Matthew, Eder, Matthias, Forcade, Edouard, Loschi, Michael, Bramanti, Stefania, Pérez-Simón, Jose Antonio, Czerw, Tomasz, Polverelli, Nicola, Drozd-Sokolowska, Joanna, Raj, Kavita, Hernández-Boluda, Juan Carlos, and McLornan, Donal P.

Published
2024
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6. Alternative donor transplantation for severe aplastic anemia: a comparative study of the SAAWP EBMT

Author

Montoro, Juan, Eikema, Dirk-Jan, Tuffnell, Joe, Potter, Victoria, Kalwak, Krzysztof, Halkes, Constantijn J. M., Kulagin, Alexander, Collin, Matthew, Wynn, Robert F., Robinson, Stephen, Nicholson, Emma, Sengeloev, Henrik, Clay, Jennifer, Halahleh, Khalid, Skorobogatova, Elena, Sanz, Jaime, Passweg, Jakob, Mielke, Stephan, Ryhänen, Samppa, Carpenter, Ben, Gedde-Dahl, Tobias, Tholouli, Eleni, Fanin, Renato, Lewalle, Philippe, Kulasekararaj, Austin, Risitano, Antonio, and Peffault de Latour, Régis

Published
2024
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7. Risk factors for Nocardia infection among allogeneic hematopoietic cell transplant recipients: A case-control study of the Infectious Diseases Working Party of the European Society for Blood and Marrow Transplantation

Author

De Greef, Julien, Averbuch, Dina, Tondeur, Laura, Duréault, Amélie, Zuckerman, Tsila, Roussel, Xavier, Robin, Christine, Xhaard, Alienor, Pagliuca, Simona, Beguin, Yves, Botella-Garcia, Carmen, Khanna, Nina, Le Bourgeois, Amandine, Van Praet, Jens, Ho, Aloysius, Kröger, Nicolaus, Ducastelle Leprêtre, Sophie, Roos-Weil, Damien, Aljurf, Mahmoud, Blijlevens, Nicole, Blau, Igor Wolfgang, Carlson, Kristina, Collin, Matthew, Ganser, Arnold, Villate, Alban, Lakner, Johannes, Martin, Sonja, Nagler, Arnon, Ram, Ron, Torrent, Anna, Stamouli, Maria, Mikulska, Malgorzata, Gil, Lidia, Wendel, Lotus, Tridello, Gloria, Knelange, Nina, de la Camara, Rafael, Lortholary, Olivier, Fontanet, Arnaud, Styczynski, Jan, Maertens, Johan, Coussement, Julien, and Lebeaux, David

Published
2024
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9. Improved draft reference genome for the Glassy-winged Sharpshooter (Homalodisca vitripennis), a vector for Pierce's disease

Author

Ettinger, Cassandra L, Byrne, Frank J, Collin, Matthew A, Carter-House, Derreck, Walling, Linda L, Atkinson, Peter W, Redak, Rick A, and Stajich, Jason E

Subjects
Biotechnology, Genetics, Animals, Genome, Insect, Hemiptera, Metagenome, Pilot Projects, Xylella, Glassy-winged sharpshooter, leafhopper, Homalodisca vitripennis, insect vector, genome assembly, genome annotation, Wolbachia, endosymbionts
Abstract

Homalodisca vitripennis (Hemiptera: Cicadellidae), known as the glassy-winged sharpshooter, is a xylem feeding leafhopper and an important agricultural pest as a vector of Xylella fastidiosa, which causes Pierce's disease in grapes and a variety of other scorch diseases. The current H. vitripennis reference genome from the Baylor College of Medicine's i5k pilot project is a 1.4-Gb assembly with 110,000 scaffolds, which still has significant gaps making identification of genes difficult. To improve on this effort, we used a combination of Oxford Nanopore long-read sequencing technology combined with Illumina sequencing reads to generate a better assembly and first-pass annotation of the whole genome sequence of a wild-caught Californian (Tulare County) individual of H. vitripennis. The improved reference genome assembly for H. vitripennis is 1.93-Gb in length (21,254 scaffolds, N50 = 650 Mb, BUSCO completeness = 94.3%), with 33.06% of the genome masked as repetitive. In total, 108,762 gene models were predicted including 98,296 protein-coding genes and 10,466 tRNA genes. As an additional community resource, we identified 27 orthologous candidate genes of interest for future experimental work including phenotypic marker genes like white. Furthermore, as part of the assembly process, we generated four endosymbiont metagenome-assembled genomes, including a high-quality near complete 1.7-Mb Wolbachia sp. genome (1 scaffold, CheckM completeness = 99.4%). The improved genome assembly and annotation for H. vitripennis, curated set of candidate genes, and endosymbiont MAGs will be invaluable resources for future research of H. vitripennis.

Published
2021

10. A Course-Based Undergraduate Research Experience in CRISPR-Cas9 Experimental Design to Support Reverse Genetic Studies in Arabidopsis thaliana

Author

Mills, Alison, Jaganatha, Venkateswari, Cortez, Alejandro, Guzman, Michael, Burnette, James M, Collin, Matthew, Lopez-Lopez, Berenise, Wessler, Susan R, Van Norman, Jaimie M, Nelson, David C, and Rasmussen, Carolyn G

Subjects
Curriculum and Pedagogy, Education, Genetics, Biotechnology, course-based undergraduate research experience, CURE, remote learning, plant biology, CRISPR-Cas9, Curriculum and pedagogy
Abstract

Gene-editing tools such as CRISPR-Cas9 have created unprecedented opportunities for genetic studies in plants and animals. We designed a course-based undergraduate research experience (CURE) to train introductory biology students in the concepts and implementation of gene-editing technology as well as develop their soft skills in data management and scientific communication. We present two versions of the course that can be implemented with twice-weekly meetings over a 5-week period. In the remote-learning version, students performed homology searches, designed guide RNAs (gRNAs) and primers, and learned the principles of molecular cloning. This version is appropriate when access to laboratory equipment or in-person instruction is limited, such as during closures that have occurred in response to the COVID-19 pandemic. In person, students designed gRNAs, cloned CRISPR-Cas9 constructs, and performed genetic transformation of Arabidopsis thaliana. Students learned how to design effective gRNA pairs targeting their assigned gene with an 86% success rate. Final exams tested students' ability to apply knowledge of an unfamiliar genome database to characterize gene structure and to properly design gRNAs. Average final exam scores of ∼73% and ∼84% for in-person and remote-learning CUREs, respectively, indicated that students met learning outcomes. The highly parallel nature of the CURE makes it possible to target dozens to hundreds of genes, depending on the number of sections. Applying this approach in a sensitized mutant background enables focused reverse genetic screens for genetic suppressors or enhancers. The course can be adapted readily to other organisms or projects that employ gene editing.

Published
2021

12. Genomic and anatomical comparisons of skin support independent adaptation to life in water by cetaceans and hippos

Author

Springer, Mark S, Guerrero-Juarez, Christian F, Huelsmann, Matthias, Collin, Matthew A, Danil, Kerri, McGowen, Michael R, Oh, Ji Won, Ramos, Raul, Hiller, Michael, Plikus, Maksim V, and Gatesy, John

Subjects
Biological Sciences, Evolutionary Biology, Genetics, Human Genome, Generic health relevance, Animals, Artiodactyla, Biological Evolution, Cetacea, Genome, Genomics, Phylogeny, Skin, Water, Hippopotamidae, epidermis, gene loss, histology, keratin, skin, Medical and Health Sciences, Psychology and Cognitive Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences, Psychology
Abstract

The macroevolutionary transition from terra firma to obligatory inhabitance of the marine hydrosphere has occurred twice in the history of Mammalia: Cetacea and Sirenia. In the case of Cetacea (whales, dolphins, and porpoises), molecular phylogenies provide unambiguous evidence that fully aquatic cetaceans and semiaquatic hippopotamids (hippos) are each other's closest living relatives. Ancestral reconstructions suggest that some adaptations to the aquatic realm evolved in the common ancestor of Cetancodonta (Cetacea + Hippopotamidae). An alternative hypothesis is that these adaptations evolved independently in cetaceans and hippos. Here, we focus on the integumentary system and evaluate these hypotheses by integrating new histological data for cetaceans and hippos, the first genome-scale data for pygmy hippopotamus, and comprehensive genomic screens and molecular evolutionary analyses for protein-coding genes that have been inactivated in hippos and cetaceans. We identified eight skin-related genes that are inactivated in both cetaceans and hippos, including genes that are related to sebaceous glands, hair follicles, and epidermal differentiation. However, none of these genes exhibit inactivating mutations that are shared by cetaceans and hippos. Mean dates for the inactivation of skin genes in these two clades serve as proxies for phenotypic changes and suggest that hair reduction/loss, the loss of sebaceous glands, and changes to the keratinization program occurred ∼16 Ma earlier in cetaceans (∼46.5 Ma) than in hippos (∼30.5 Ma). These results, together with histological differences in the integument and prior analyses of oxygen isotopes from stem hippopotamids ("anthracotheres"), support the hypothesis that aquatic skin adaptations evolved independently in hippos and cetaceans.

Published
2021

13. Genomic diversity generated by a transposable element burst in a rice recombinant inbred population

Author

Chen, Jinfeng, Lu, Lu, Robb, Sofia MC, Collin, Matthew, Okumoto, Yutaka, Stajich, Jason E, and Wessler, Susan R

Subjects
Biological Sciences, Genetics, Human Genome, Biotechnology, Generic health relevance, Base Sequence, DNA Transposable Elements, Genetic Variation, Genome, Plant, Genomics, Oryza, Transposases, mPing, active transposon, recombinant inbred lines, excision, structural variation
Abstract

Genomes of all characterized higher eukaryotes harbor examples of transposable element (TE) bursts-the rapid amplification of TE copies throughout a genome. Despite their prevalence, understanding how bursts diversify genomes requires the characterization of actively transposing TEs before insertion sites and structural rearrangements have been obscured by selection acting over evolutionary time. In this study, rice recombinant inbred lines (RILs), generated by crossing a bursting accession and the reference Nipponbare accession, were exploited to characterize the spread of the very active Ping/mPing family through a small population and the resulting impact on genome diversity. Comparative sequence analysis of 272 individuals led to the identification of over 14,000 new insertions of the mPing miniature inverted-repeat transposable element (MITE), with no evidence for silencing of the transposase-encoding Ping element. In addition to new insertions, Ping-encoded transposase was found to preferentially catalyze the excision of mPing loci tightly linked to a second mPing insertion. Similarly, structural variations, including deletion of rice exons or regulatory regions, were enriched for those with break points at one or both ends of linked mPing elements. Taken together, these results indicate that structural variations are generated during a TE burst as transposase catalyzes both the high copy numbers needed to distribute linked elements throughout the genome and the DNA cuts at the TE ends known to dramatically increase the frequency of recombination.

Published
2020

14. Lineage switching of the cellular distribution of BRAFV600E in multisystem Langerhans cell histiocytosis

Author

Milne, Paul, Bomken, Simon, Slater, Olga, Kumar, Ashish, Nelson, Adam, Roy, Somak, Velazquez, Jessica, Mankad, Kshitij, Nicholson, James, Yeomanson, Dan, Grundy, Richard, Kamal, Ahmed, Penn, Anthony, Pears, Jane, Millen, Gerard, Morland, Bruce, Hayden, James, Lam, Jason, Madkhali, Maymoon, MacDonald, Jamie, Singh, Preeti, Pagan, Sarah, Rodriguez-Galindo, Carlos, Minkov, Milen, Donadieu, Jean, Picarsic, Jennifer, Allen, Carl, Bigley, Venetia, and Collin, Matthew

Published
2023
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18. Allogeneic hematopoietic stem cell transplantation for adult HLH: a retrospective study by the chronic malignancies and inborn errors working parties of EBMT

Author

Machowicz, Rafal, Suarez, Felipe, Wiktor-Jedrzejczak, Wieslaw, Eikema, Diderik-Jan, de Wreede, Liesbeth C., Blok, Henric-Jan, Isaksson, Cecilia, Einsele, Hermann, Poiré, Xavier, van Dorp, Suzanne, Nikolousis, Emmanouil, Johansson, Jan-Erik, Kobbe, Guido, Zecca, Marco, Arnold, Renate, Gerbitz, Armin, Finke, Jürgen, Díez-Martín, Jose Luis, Bonifazi, Francesca, McQuaker, Grant, Lenhoff, Stig, Rohrlich, Pierre-Simon, Theobald, Matthias, Ljungman, Per, Collin, Matthew, Albert, Michael H., Ehninger, Gerhard, Carlson, Kristina, Halaburda, Kazimierz, Lehmberg, Kai, Schönland, Stefan, Yakoub-Agha, Ibrahim, Gennery, Andrew R., Lankester, Arjan C., and Kröger, Nicolaus

Published
2022
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19. Epigenetic regulator genes direct lineage switching in MLL/AF4 leukemia

Author

Tirtakusuma, Ricky, Szoltysek, Katarzyna, Milne, Paul, Grinev, Vasily V., Ptasinska, Anetta, Chin, Paulynn S., Meyer, Claus, Nakjang, Sirintra, Hehir-Kwa, Jayne Y., Williamson, Daniel, Cauchy, Pierre, Keane, Peter, Assi, Salam A., Ashtiani, Minoo, Kellaway, Sophie G., Imperato, Maria R., Vogiatzi, Fotini, Schweighart, Elizabeth K., Lin, Shan, Wunderlich, Mark, Stutterheim, Janine, Komkov, Alexander, Zerkalenkova, Elena, Evans, Paul, McNeill, Hesta, Elder, Alex, Martinez-Soria, Natalia, Fordham, Sarah E., Shi, Yuzhe, Russell, Lisa J., Pal, Deepali, Smith, Alex, Kingsbury, Zoya, Becq, Jennifer, Eckert, Cornelia, Haas, Oskar A., Carey, Peter, Bailey, Simon, Skinner, Roderick, Miakova, Natalia, Collin, Matthew, Bigley, Venetia, Haniffa, Muzlifah, Marschalek, Rolf, Harrison, Christine J., Cargo, Catherine A., Schewe, Denis, Olshanskaya, Yulia, Thirman, Michael J., Cockerill, Peter N., Mulloy, James C., Blair, Helen J., Vormoor, Josef, Allan, James M., Bonifer, Constanze, Heidenreich, Olaf, and Bomken, Simon

Published
2022
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20. International expert consensus recommendations for the diagnosis and treatment of Langerhans cell histiocytosis in adults

Author

Goyal, Gaurav, Tazi, Abdellatif, Go, Ronald S., Rech, Karen L., Picarsic, Jennifer L., Vassallo, Robert, Young, Jason R., Cox, Christian W., Van Laar, Jan, Hermiston, Michelle L., Cao, Xin-Xin, Makras, Polyzois, Kaltsas, Gregory, Haroche, Julien, Collin, Matthew, McClain, Kenneth L., Diamond, Eli L., and Girschikofsky, Michael

Published
2022
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22. Long-term results and GvHD after prophylactic and preemptive donor lymphocyte infusion after allogeneic stem cell transplantation for acute leukemia

Author

Schmid, Christoph, Labopin, Myriam, Schaap, Nicolaas, Veelken, Hendrik, Brecht, Arne, Stadler, Michael, Finke, Juergen, Baron, Frederic, Collin, Matthew, Bug, Gesine, Ljungman, Per, Blaise, Didier, Tischer, Johanna, Bloor, Adrian, Kulagin, Aleksander, Giebel, Sebastian, Gorin, Norbert-Claude, Esteve, Jordi, Ciceri, Fabio, Savani, Bipin, Nagler, Arnon, and Mohty, Mohamad

Published
2022
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23. ALK-positive histiocytosis: a new clinicopathologic spectrum highlighting neurologic involvement and responses to ALK inhibition

Author

Kemps, Paul G., Picarsic, Jennifer, Durham, Benjamin H., Hélias-Rodzewicz, Zofia, Hiemcke-Jiwa, Laura, van den Bos, Cor, van de Wetering, Marianne D., van Noesel, Carel J.M., van Laar, Jan A.M., Verdijk, Robert M., Flucke, Uta E., Hogendoorn, Pancras C.W., Woei-A-Jin, F. J. Sherida H., Sciot, Raf, Beilken, Andreas, Feuerhake, Friedrich, Ebinger, Martin, Möhle, Robert, Fend, Falko, Bornemann, Antje, Wiegering, Verena, Ernestus, Karen, Méry, Tina, Gryniewicz-Kwiatkowska, Olga, Dembowska-Baginska, Bozenna, Evseev, Dmitry A., Potapenko, Vsevolod, Baykov, Vadim V., Gaspari, Stefania, Rossi, Sabrina, Gessi, Marco, Tamburrini, Gianpiero, Héritier, Sébastien, Donadieu, Jean, Bonneau-Lagacherie, Jacinthe, Lamaison, Claire, Farnault, Laure, Fraitag, Sylvie, Jullié, Marie-Laure, Haroche, Julien, Collin, Matthew, Allotey, Jackie, Madni, Majid, Turner, Kerry, Picton, Susan, Barbaro, Pasquale M., Poulin, Alysa, Tam, Ingrid S., El Demellawy, Dina, Empringham, Brianna, Whitlock, James A., Raghunathan, Aditya, Swanson, Amy A., Suchi, Mariko, Brandt, Jon M., Yaseen, Nabeel R., Weinstein, Joanna L., Eldem, Irem, Sisk, Bryan A., Sridhar, Vaishnavi, Atkinson, Mandy, Massoth, Lucas R., Hornick, Jason L., Alexandrescu, Sanda, Yeo, Kee Kiat, Petrova-Drus, Kseniya, Peeke, Stephen Z., Muñoz-Arcos, Laura S., Leino, Daniel G., Grier, David D., Lorsbach, Robert, Roy, Somak, Kumar, Ashish R., Garg, Shipra, Tiwari, Nishant, Schafernak, Kristian T., Henry, Michael M., van Halteren, Astrid G.S., Abla, Oussama, Diamond, Eli L., and Emile, Jean-François

Published
2022
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25. Langerhans cell histiocytosis: NACHO update on progress, chaos, and opportunity on the path to rational cures.

Author

Bielamowicz, Kevin, Dimitrion, Peter, Abla, Oussama, Bomken, Simon, Campbell, Patrick, Collin, Matthew, Degar, Barbara, Diamond, Eli L., Eckstein, Olive S., El‐Mallawany, Nader, Fluchel, Mark, Goyal, Gaurav, Henry, Michael M., Hermiston, Michelle, Hogarty, Michael, Jeng, Michael, Jubran, Rima, Lubega, Joseph, Kumar, Ashish, and Ladisch, Stephan

Subjects
MITOGEN-activated protein kinases, SOMATIC mutation, TREATMENT failure, SYMPTOMS, ERDHEIM-Chester disease, LANGERHANS-cell histiocytosis
Abstract

Langerhans cell histiocytosis (LCH) is a myeloid neoplastic disorder characterized by lesions with CD1a‐positive/Langerin (CD207)‐positive histiocytes and inflammatory infiltrate that can cause local tissue damage and systemic inflammation. Clinical presentations range from single lesions with minimal impact to life‐threatening disseminated disease. Therapy for systemic LCH has been established through serial trials empirically testing different chemotherapy agents and durations of therapy. However, fewer than 50% of patients who have disseminated disease are cured with the current standard‐of‐care vinblastine/prednisone/(mercaptopurine), and treatment failure is associated with long‐term morbidity, including the risk of LCH‐associated neurodegeneration. Historically, the nature of LCH—whether a reactive condition versus a neoplastic/malignant condition—was uncertain. Over the past 15 years, seminal discoveries have broadly defined LCH pathogenesis; specifically, activating mitogen‐activated protein kinase pathway mutations (most frequently, BRAFV600E) in myeloid precursors drive lesion formation. LCH therefore is a clonal neoplastic disorder, although secondary inflammatory features contribute to the disease. These paradigm‐changing insights offer a promise of rational cures for patients based on individual mutations, clonal reservoirs, and extent of disease. However, the pace of clinical trial development behind lags the kinetics of translational discovery. In this review, the authors discuss the current understanding of LCH biology, clinical characteristics, therapeutic strategies, and opportunities to improve outcomes for every patient through coordinated agent prioritization and clinical trial efforts. Langerhans cell histiocytosis is an inflammatory myeloid neoplastic disorder driven by activating somatic mutations in mitogen‐activated protein kinase pathway genes. Rapid advances in mechanistic understanding of Langerhans cell histiocytosis now offer opportunities to improve outcomes for patients. [ABSTRACT FROM AUTHOR]

Published
2024
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27. Graft-versus-Host Disease Prophylaxis with Post- Transplantation Cyclophosphamide in Chronic Myeloid Leukemia Patients Undergoing Allogeneic Hematopoietic Cell Transplantation from an Unrelated or Mismatched Related Donor: A Comparative Study from the Chronic Malignancies Working Party of the EBMT (CMWP-EBMT)

Author

Ortí, Guillermo, Gras, Luuk, Koster, Linda, Kulagin, Aleksander, Byrne, Jenny, Apperley, Jane F., Halaburda, Kazimierz, Blau, Igor Wolfgang, Clark, Andrew, Kröger, Nicolaus, Griskevicius, Laimonas, Carlson, Kristina, Collin, Matthew, Bloor, Adrian, Raiola, Anna Maria, Blaise, Didier, Aljurf, Mahmoud, López-Corral, Lucia, Sakellari, Ioanna, Beguin, Yves, Wrobel, Tomasz, de Rosa, Luca, de Lavallade, Hughes, Hayden, Patrick J., McLornan, Donal, Chalandon, Yves, and Yakoub-Agha, Ibrahim

Published
2024
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28. Poor outcome of patients with COVID-19 after CAR T-cell therapy for B-cell malignancies: results of a multicenter study on behalf of the European Society for Blood and Marrow Transplantation (EBMT) Infectious Diseases Working Party and the European Hematology Association (EHA) Lymphoma Group

Author

Spanjaart, Anne Mea, Ljungman, Per, de La Camara, Rafael, Tridello, Gloria, Ortiz-Maldonado, Valentín, Urbano-Ispizua, Alvaro, Barba, Pere, Kwon, Mi, Caballero, Dolores, Sesques, Pierre, Bachy, Emmanuel, Di Blasi, Roberta, Thieblemont, Catherine, Calkoen, Friso, Mutsaers, Pim, Maertens, Johan, Giannoni, Livia, Nicholson, Emma, Collin, Matthew, Vaz, Carlos Pinho, Metafuni, Elisabetta, Martinez-Lopez, Joaquin, Dignan, Fiona L., Ribera, Josep-Maria, Nagler, Arnon, Folber, Frantisek, Sanderson, Robin, Bloor, Adrian, Ciceri, Fabio, Knelange, Nina, Ayuk, Francis, Kroger, Nicolaus, Kersten, Marie José, and Mielke, Stephan

Published
2021
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30. Allogeneic hematopoietic cell transplantation for VEXAS syndrome: results of a multicenter study of the EBMT

Author

Gurnari, Carmelo, primary, Koster, Linda, additional, Baaij, Laurien, additional, Heiblig, Mael, additional, Yakoub-Agha, Ibrahim, additional, Collin, Matthew, additional, Passweg, Jakob, additional, Bulabois, Claude E., additional, Khan, Anjum, additional, Loschi, Michael, additional, Carnevale-Schianca, Fabrizio, additional, Crisà, Elena, additional, Caravelli, Daniela, additional, Kuball, Jürgen, additional, Saraceni, Francesco, additional, Olivieri, Attilio, additional, Rambaldi, Alessandro, additional, Kulasekararaj, Austin G., additional, Hayden, Patrick J., additional, Badoglio, Manuela, additional, Onida, Francesco, additional, Scheid, Christof, additional, Franceschini, Franco, additional, Mekinian, Arsène, additional, Savic, Sinisa, additional, Voso, Maria Teresa, additional, Drozd-Sokolowska, Joanna, additional, Snowden, John A, additional, Raj, Kavita, additional, Alexander, Tobias, additional, Robin, Marie, additional, Greco, Raffaella, additional, and McLornan, Donal P., additional

Published
2024
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31. Histiocytosis

Author

Emile, Jean-François, Cohen-Aubart, Fleur, Collin, Matthew, Fraitag, Sylvie, Idbaih, Ahmed, Abdel-Wahab, Omar, Rollins, Barrett J, Donadieu, Jean, and Haroche, Julien

Published
2021
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33. COVID-19-associated hyperinflammation and escalation of patient care: a retrospective longitudinal cohort study

Author

Manson, Jessica J, Crooks, Colin, Naja, Meena, Ledlie, Amanda, Goulden, Bethan, Liddle, Trevor, Khan, Emon, Mehta, Puja, Martin-Gutierrez, Lucia, Waddington, Kirsty E, Robinson, George A, Ribeiro Santos, Liliana, McLoughlin, Eve, Snell, Antonia, Adeney, Christopher, Schim van der Loeff, Ina, Baker, Kenneth F, Duncan, Christopher J A, Hanrath, Aidan T, Lendrem, B Clare, De Soyza, Anthony, Peng, Junjie, J'Bari, Hajar, Greenwood, Mandy, Hawkins, Ellie, Peckham, Hannah, Marks, Michael, Rampling, Tommy, Luintel, Akish, Williams, Bryan, Brown, Michael, Singer, Mervyn, West, Joe, Jury, Elizabeth C, Collin, Matthew, and Tattersall, Rachel S

Published
2020
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37. Comparison of fludarabine/melphalan (FluMel) with fludarabine/melphalan/BCNU or thiotepa (FBM/FTM) in patients with AML in first complete remission undergoing allogeneic hematopoietic stem cell transplantation – a registry study on behalf of the EBMT Acute Leukemia Working Party

Author

Duque-Afonso, Jesús, primary, Finke, Jürgen, additional, Ngoya, Maud, additional, Galimard, Jacques-Emmanuel, additional, Craddock, Charles, additional, Raj, Kavita, additional, Bloor, Adrian, additional, Nicholson, Emma, additional, Eder, Matthias, additional, Kim, Orchard, additional, Valerius, Thomas, additional, Snowden, John A., additional, Tholouli, Eleni, additional, Crawley, Charles, additional, Collin, Matthew, additional, Wilson, Keith M. O., additional, Gadisseur, Alain, additional, Protheroe, Rachel, additional, Wagner-Drouet, Eva Maria, additional, Savani, Bipin N., additional, Spyridonidis, Alexandros, additional, Ciceri, Fabio, additional, Nagler, Arnon, additional, and Mohty, Mohamad, additional

Published
2023
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38. Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency

Author

Kozyra, Emilia J., Pastor, Victor B., Lefkopoulos, Stylianos, Sahoo, Sushree S., Busch, Hauke, Voss, Rebecca K., Erlacher, Miriam, Lebrecht, Dirk, Szvetnik, Enikoe A., Hirabayashi, Shinsuke, Pasaulienė, Ramunė, Pedace, Lucia, Tartaglia, Marco, Klemann, Christian, Metzger, Patrick, Boerries, Melanie, Catala, Albert, Hasle, Henrik, de Haas, Valerie, Kállay, Krisztián, Masetti, Riccardo, De Moerloose, Barbara, Dworzak, Michael, Schmugge, Markus, Smith, Owen, Starý, Jan, Mejstrikova, Ester, Ussowicz, Marek, Morris, Emma, Singh, Preeti, Collin, Matthew, Derecka, Marta, Göhring, Gudrun, Flotho, Christian, Strahm, Brigitte, Locatelli, Franco, Niemeyer, Charlotte M., Trompouki, Eirini, and Wlodarski, Marcin W.

Published
2020
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39. Histiocytic disorders

Author

McClain, Kenneth L., Bigenwald, Camille, Collin, Matthew, Haroche, Julien, Marsh, Rebecca A., Merad, Miriam, Picarsic, Jennifer, Ribeiro, Karina B., and Allen, Carl E.

Published
2021
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41. Peripheral host T cells survive hematopoietic stem cell transplantation and promote graft-versus-host disease

Author

Divito, Sherrie J., Aasebo, Anders T., Matos, Tiago R., Hsieh, Pei-Chen, Collin, Matthew, Elco, Christopher P., O'Malley, John T., Baekkevold, Espen S., Reims, Henrik, Gedde-Dahl, Tobias, Hagerstrom, Michael, Hilaire, Jude, Lian, John W., Milford, Edgar L., Pinkus, Geraldine S., Ho, Vincent T., Soiffer, Robert J., Kim, Haesook T., Mihm, Martin C., Ritz, Jerome, Guleria, Indira, Cutler, Corey S., Clark, Rachael A., Jahnsen, Frode L., and Kupper, Thomas S.

Subjects
Thermo Fisher Scientific Inc., Medical research -- Health aspects, Skin -- Health aspects, Hematopoietic stem cell transplantation -- Health aspects, Stem cells -- Health aspects, Scientific equipment industry -- Health aspects, T cells -- Health aspects, Health care industry
Abstract

Graft-versus-host disease (GVHD) is a major cause of morbidity and mortality in hematopoietic stem cell transplantation (HSCT). Donor T cells are key mediators in pathogenesis, but a contribution from host T cells has not been explored, as conditioning regimens are believed to deplete host T cells. To evaluate a potential role for host T cells in GVHD, the origin of skin and blood T cells was assessed prospectively in patients after HSCT in the absence of GVHD. While blood contained primarily donor-derived T cells, most T cells in the skin were host derived. We next examined patient skin, colon, and blood during acute GVHD. Host T cells were present in all skin and colon acute GVHD specimens studied, yet were largely absent in blood. We observed acute skin GVHD in the presence of 100% host T cells. Analysis demonstrated that a subset of host T cells in peripheral tissues were proliferating ([Ki67.sup.+]) and producing the proinflammatory cytokines IFN-[gamma] and IL-17 in situ. Comparatively, the majority of antigen-presenting cells (APCs) in tissue in acute GVHD were donor derived, and donor-derived APCs were observed directly adjacent to host T cells. A humanized mouse model demonstrated that host skin-resident T cells could be activated by donor monocytes to generate a GVHD-like dermatitis. Thus, host tissue-resident T cells may play a previously unappreciated pathogenic role in acute GVHD., Introduction Graft-versus-host disease (GVHD) is a major cause of morbidity and mortality in hematopoietic stem cell transplantation (HSCT) (1-6). Current dogma holds that donor T cells, either transferred with or [...]

Published
2020
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42. Donor monocyte-derived macrophages promote human acute graft-versus-host disease

Author

Jardine, Laura, Cytlak, Urszula, Gunawan, Merry, Reynolds, Gary, Green, Kile, Wang, Xiao-Nong, Pagan, Sarah, Paramitha, Maharani, Lamb, Christopher A., Long, Anna K., Hurst, Erin, Nair, Smeera, Jackson, Graham H., Publicover, Amy, Bigley, Venetia, Haniffa, Muzlifah, Simpson, A.J., and Collin, Matthew

Subjects
Macrophages -- Analysis, Skin -- Analysis -- Genetic aspects, Gene expression -- Analysis -- Genetic aspects, T cells -- Genetic aspects -- Analysis, Health care industry
Abstract

Myelopoiesis is invariably present and contributes to pathology in animal models of graft-versus-host disease (GVHD). In humans, a rich inflammatory infiltrate bearing macrophage markers has also been described in histological studies. In order to determine the origin, functional properties, and role in pathogenesis of these cells, we isolated single-cell suspensions from acute cutaneous GVHD and subjected them to genotype, transcriptome, and in vitro functional analysis. A donor-derived population of [CD11c.sup.+][CD14.sup.+] cells was the dominant population of all leukocytes in GVHD. Surface phenotype and NanoString gene expression profiling indicated the closest steady-state counterpart of these cells to be monocyte-derived macrophages. In GVHD, however, there was upregulation of monocyte antigens SIRP[alpha] and S100A8/9 transcripts associated with leukocyte trafficking, pattern recognition, antigen presentation, and costimulation. Isolated GVHD macrophages stimulated greater proliferation and activation of allogeneic T cells and secreted higher levels of inflammatory cytokines than their steady-state counterparts. In HLA-matched mixed leukocyte reactions, we also observed differentiation of activated macrophages with a similar phenotype. These exhibited cytopathicity to a keratinocyte cell line and mediated pathological damage to skin explants independently of T cells. Together, these results define the origin, functional properties, and potential pathogenic roles of human GVHD macrophages., Introduction Acute graft-versus-host disease (GVHD) affects up to 50% of patients receiving allogeneic bone marrow transplantation (BMT) and remains a leading cause of morbidity and mortality (1, 2). GVHD most [...]

Published
2020
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43. Reducing the diversity of allogeneic transplant protocols in the UK through a BSBMT Anthony Nolan Protocol Harmonization Initiative

Author

Anthias, Chloe, Apperley, Jane, Bloor, Adrian, Byrne, Jennifer, Collin, Matthew, Crawley, Charles, Craddock, Charles, Finnegan, Damian, Gilleece, Maria, Gribben, John, Hunter, Ann, Hunter, Hannah, Koh, Mickey, Mackinnon, Stephen, Malladi, Ram, Marks, David, McQuaker, Grant, Nikolousis, Manos, Orchard, Kim, Pavlu, Jiri, Peniket, Andrew, Potter, Mike, Potter, Victoria, Robinson, Stephen, Russell, Nigel, Salim, Rahuman, Snowden, John, Thomson, Kirsty, Tholouli, Eleni, and Wilson, Keith

Published
2020
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46. Genome‐Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim‐Chester Disease.

Author

Martínez‐López, Javier, Márquez, Ana, Pegoraro, Francesco, Ortiz‐Fernández, Lourdes, Acosta‐Herrera, Marialbert, Kerick, Martin, Gelain, Elena, Diamond, Eli L., Durham, Benjamin H., Abdel‐Wahab, Omar, Go, Ronald S., Koster, Matthew J., Dagna, Lorenzo, Campochiaro, Corrado, Collin, Matthew, Milne, Paul, Estrada‐Veras, Juvianee I., O'Brien, Kevin, Papo, Matthias, and Cohen‐Aubar, Fleur

Subjects
GENETIC mutation, CONFIDENCE intervals, GENOME-wide association studies, CELLULAR signal transduction, GENE expression, DESCRIPTIVE statistics, DATA analysis software, ODDS ratio, HEMATOPOIESIS, LOGISTIC regression analysis, ERDHEIM-Chester disease
Abstract

Objective: Erdheim‐Chester disease (ECD) is rare histiocytosis with a wide range of clinical manifestations. Somatic mutations are key to the pathogenesis of the disease; however, the relationship between germline genetic variants and ECD has not been examined so far. The present study aims to explore the inherited genetic component of ECD by performing the first genome‐wide association study. Methods: After quality controls, a cohort of 255 patients with ECD and 7,471 healthy donors was included in this study. Afterward, a logistic regression followed by in silico functional annotation was performed. Results: A signal at the 18q12.3 genomic region was identified as a new susceptibility locus for ECD (P = 2.75 × 10−11; Odds Ratio = 2.09). This association was annotated to the SETBP1 gene, which is involved in clonal haematopoiesis. Functional annotation of this region and of the identified suggestive signals revealed additional genes that could be potentially involved in the pathogenesis of the disease. Conclusion: Overall, this work demonstrates that germline genetic variants can impact on the development of ECD and suggests new pathways with a potential pathogenic role. [ABSTRACT FROM AUTHOR]

Published
2024
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47. Organ complications after CD19 CAR T-cell therapy for large B cell lymphoma: a retrospective study from the EBMT transplant complications and lymphoma working party

Author

Penack, Olaf, primary, Peczynski, Christophe, additional, Koenecke, Christian, additional, Polge, Emmanuelle, additional, Sanderson, Robin, additional, Yakoub-Agha, Ibrahim, additional, Fegueux, Nathalie, additional, Daskalakis, Michael, additional, Collin, Matthew, additional, Dreger, Peter, additional, Kröger, Nicolaus, additional, Schanz, Urs, additional, Bloor, Adrian, additional, Ganser, Arnold, additional, Besley, Caroline, additional, Wulf, Gerald G., additional, Novak, Urban, additional, Moiseev, Ivan, additional, Schoemans, Hélène, additional, Basak, Grzegorz W., additional, Chabannon, Christian, additional, Sureda, Anna, additional, Glass, Bertram, additional, and Peric, Zinaida, additional

Published
2023
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