Ex vivo T-lymphopoiesis assays assisting corrective treatment choice for genetically undefined T-lymphocytopenia

Authors: Golwala, Zainab M. ^{a, b, 1}, Spiridou Goncalves, Helena ^{a, 1}, Moirangthem, Ranjita Devi ^{c, d}, Evans, Grace ^a, Lizot, Sabrina ^c, de Koning, Coco ^e, Garrigue, Alexandrine ^c, Corredera, Marta Martin ^{c, d}, Ocampo-Godinez, Juan Moises ^a, Howley, Evey ^b, Kricke, Susanne ^f, Awuah, Arnold ^b, Obiri-Yeboa, Irene ^b, Rai, Rajeev ^a, Sebire, Neil ^g, Bernard, Fanette ^h, Bordon Cueto De Braem, Victoria ⁱ, Boztug, Kaan ^{j, k, l, m}, Cole, Theresa ⁿ, Gennery, Andrew R. ^{o, p}, Hackett, Scott ^q, Hambleton, Sophie ^{o, p}, Holm, Mette ^r, Kusters, Maaike A. ^b, Klocperk, Adam ^s, Marzollo, Antonio ^t, Marcus, Nufar ^{u, v}, Nademi, Zohreh ^{o, p}, Pachlopnik Schmid, Jana ^{w, x}, Pichler, Herbert ^{j, m}, Sellmer, Anna ^r, Soler-Palacin, Pere ^{y, z, aa}, Soomann, Maarja ^w, Torpiano, Paul ^b, van Montfrans, Joris ^ab, Nierkens, Stefan ^{e, ac}, Adams, Stuart ^f, Buckland, Matthew ^b, Gilmour, Kimberly ^b, Worth, Austen ^b, Thrasher, Adrian J. ^a, Davies, E. Graham ^{a, b}, André, Isabelle ^c, Kreins, Alexandra Y. ^{a, b, ⁎}

Source: In Clinical Immunology May 2025 274

Preclinical ex vivo IL2RG gene therapy using autologous hematopoietic stem cells as an effective and safe treatment for X-linked severe combined immunodeficiency disease

Authors: Hu, Mingfeng ^{a, 1}, Xu, Qiling ^{a, b, 1}, Zhang, Fang ^{d, 1}, Buckland, Karen F. ^d, Gao, Yelei ^{a, b}, Du, Weixia ^{a, b}, Ding, Yuan ^{a, b}, Zhou, Lina ^{a, b}, Sun, Xiulian ^e, Ma, Lijia ^f, Zhang, Zhiyong ^{a, b, c}, Tang, Xuemei ^{a, c}, Zhao, Xiaodong ^{a, b, c, ⁎⁎⁎}, Thrasher, Adrian J. ^{d, ⁎⁎}, An, Yunfei ^{a, b, c, ⁎}

Source: In Genes & Diseases May 2025 12(3)

Ex vivo modification of hematopoietic stem and progenitor cells for gene therapy

Authors: Williams, David A. ^{1, ∗}, Kohn, Donald B. ², Thrasher, Adrian J. ³

Source: In Molecular Therapy

Betibeglogene autotemcel gene therapy in patients with transfusion-dependent, severe genotype β-thalassaemia (HGB-212): a non-randomised, multicentre, single-arm, open-label, single-dose, phase 3 trial

Authors: Kwiatkowski, Janet L ^*, Walters, Mark C, Hongeng, Suradej, Yannaki, Evangelia, Kulozik, Andreas E, Kunz, Joachim B, Sauer, Martin G, Thrasher, Adrian J, Thuret, Isabelle, Lal, Ashutosh, Tao, Ge, Ali, Shamshad, Thakar, Himal L, Elliot, Heidi, Lodaya, Ankit, Lee, Ji, Colvin, Richard A, Locatelli, Franco, Thompson, Alexis A

Source: In The Lancet 30 November-6 December 2024 404(10468):2175-2186

Hematopoietic stem cell gene editing rescues B-cell development in X-linked agammaglobulinemia

Authors: Bahal, Sameer, Zinicola, Marta, Moula, Shefta E, Whittaker, Thomas E., Schejtman, Andrea, Naseem, Asma, Blanco, Elena, Vetharoy, Winston, Hu, Yi-Ting, Rai, Rajeev, Gomez-Castaneda, Eduardo, Cunha-Santos, Catarina, Burns, Siobhan O., Morris, Emma C., Booth, Claire, Turchiano, Giandomenico, Cavazza, Alessia, Thrasher, Adrian J., Santilli, Giorgia

Source: In The Journal of Allergy and Clinical Immunology July 2024 154(1):195-208

Anti-CD45 PBD-based antibody-drug conjugates are effective targeted conditioning agents for gene therapy and stem cell transplant

Authors: Yeung, Jenny ^{1, 2, 5}, Liao, Aiyin ^{1, 5}, Shaw, Matthew ^{1, 5}, Silva, Soraia ¹, Vetharoy, Winston ¹, Rico, Diego Leon ¹, Kirby, Ian ³, Zammarchi, Francesca ³, Havenith, Karin ³, de Haan, Lolke ³, van Berkel, Patrick H. ³, Sebire, Neil ⁴, Ogunbiyi, Olumide K. ⁴, Booth, Claire ^{1, 4}, Gaspar, H. Bobby ¹, Thrasher, Adrian J. ¹, Chester, Kerry A. ², Amrolia, Persis J. ^{1, 4, ∗}

Source: In Molecular Therapy 5 June 2024 32(6):1672-1686

Investigating adverse genomic and regulatory changes caused by replacement of the full-length CFTR cDNA using Cas9 and AAV

Authors: Vaidyanathan, Sriram, Kerschner, Jenny L., Paranjapye, Alekh, Sinha, Vrishti, Lin, Brian, Bedrosian, Tracy A., Thrasher, Adrian J., Turchiano, Giandomenico, Harris, Ann, Porteus, Matthew H.

Source: In Molecular Therapy - Nucleic Acids 12 March 2024 35(1)

Tailoring capsid-directed evolution technology for improved AAV-mediated CAR-T generation

Authors: Westhaus, Adrian ^{1, 2, 8}, Barba-Sarasua, Elena ^{1, 9}, Chen, Yuyan ^{3, 9}, Hsu, Kenneth ^{3, 9}, Scott, Suzanne ^{1, 4}, Knight, Maddison ¹, Haase, Florencia ¹, Mesa Mora, Santiago ¹, Houghton, Benjamin C. ², Roca-Pinilla, Ramon ¹, Kalajdzic, Predrag ⁵, O’Neill, Geraldine ³, Thrasher, Adrian J. ², Santilli, Giorgia ², Lisowski, Leszek ^{1, 6, 7, ∗}

Source: In Molecular Therapy December 2024

An improved medium formulation for efficient ex vivo gene editing, expansion and engraftment of hematopoietic stem and progenitor cells

Authors: Rai, Rajeev, Naseem, Asma, Vetharoy, Winston, Steinberg, Zohar, Thrasher, Adrian J., Santilli, Giorgia, Cavazza, Alessia

Source: In Molecular Therapy - Methods & Clinical Development 8 June 2023 29:58-69

Preclinical model for phenotypic correction of dystrophic epidermolysis bullosa by in vivo CRISPR-Cas9 delivery using adenoviral vectors

Authors: García, Marta, Bonafont, Jose, Martínez-Palacios, Jesús, Xu, Rudan, Turchiano, Giandomenico, Svensson, Stina, Thrasher, Adrian J., Larcher, Fernando, Del Rio, Marcela, Hernández-Alcoceba, Rubén, Garín, Marina I., Mencía, Ángeles, Murillas, Rodolfo

Source: In Molecular Therapy - Methods & Clinical Development 8 December 2022 27:96-108

Allosteric inhibition of SHP2 rescues functional T-cell abnormalities in SAP deficiency

Authors: Panchal, Neelam, Houghton, Benjamin Christopher, Vassalou, Elina, Thrasher, Adrian J., Booth, Claire

Source: In The Journal of Allergy and Clinical Immunology December 2022 150(6):1507-1516

Novel human liver-tropic AAV variants define transferable domains that markedly enhance the human tropism of AAV7 and AAV8

Authors: Cabanes-Creus, Marti, Navarro, Renina Gale, Zhu, Erhua, Baltazar, Grober, Liao, Sophia H.Y., Drouyer, Matthieu, Amaya, Anais K., Scott, Suzanne, Nguyen, Loan Hanh, Westhaus, Adrian, Hebben, Matthias, Wilson, Laurence O.W., Thrasher, Adrian J., Alexander, Ian E., Lisowski, Leszek

Source: In Molecular Therapy - Methods & Clinical Development 10 March 2022 24:88-101

Critical role of WASp in germinal center tolerance through regulation of B cell apoptosis and diversification

Authors: Descatoire, Marc, Fritzen, Remi, Rotman, Samuel, Kuntzelman, Genevieve, Leber, Xavier Charles, Droz-Georget, Stephanie, Thrasher, Adrian J., Traggiai, Elisabetta, Candotti, Fabio

Source: In Cell Reports 8 March 2022 38(10)

Overactive WASp in X-linked neutropenia leads to aberrant B-cell division and accelerated plasma cell generation

Authors: He, Minghui, Saeed, Mezida B., Record, Julien, Keszei, Marton, Gonçalves Pinho, Lia, Vasconcelos-Fontes, Larissa, D’Aulerio, Roberta, Vieira, Rhaissa, Oliveira, Mariana M.S., Geyer, Chiara, Bohaumilitzky, Lena, Thiemann, Meike, Deordieva, Ekaterina, Buedts, Lieselot, Matias Lopes, Joao Pedro, Pershin, Dmitry, Hammarström, Lennart, Xia, Yu, Zhao, Xiaodong, Cunningham-Rundles, Charlotte, Thrasher, Adrian J., Burns, Siobhan O., Cotta-de-Almeida, Vinicius, Liu, Chaohong, Shcherbina, Anna, Vandenberghe, Peter, Westerberg, Lisa S.

Source: In The Journal of Allergy and Clinical Immunology March 2022 149(3):1069-1084

Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys

Authors: Baruteau, Julien, Cunningham, Sharon C., Yilmaz, Berna Seker, Perocheau, Dany P., Eaglestone, Simon, Burke, Derek, Thrasher, Adrian J., Waddington, Simon N., Lisowski, Leszek, Alexander, Ian E., Gissen, Paul

Source: In Molecular Therapy - Methods & Clinical Development 10 December 2021 23:135-146

Predicting genotoxicity of viral vectors for stem cell gene therapy using gene expression-based machine learning

Authors: Schwarzer, Adrian, Talbot, Steven R., Selich, Anton, Morgan, Michael, Schott, Juliane W., Dittrich-Breiholz, Oliver, Bastone, Antonella L., Weigel, Bettina, Ha, Teng Cheong, Dziadek, Violetta, Gijsbers, Rik, Thrasher, Adrian J., Staal, Frank J.T., Gaspar, Hubert B., Modlich, Ute, Schambach, Axel, Rothe, Michael

Source: In Molecular Therapy 1 December 2021 29(12):3383-3397

WAS Promoter-Driven Lentiviral Vectors Mimic Closely the Lopsided WASP Expression during Megakaryocytic Differentiation

Authors: Muñoz, Pilar, Tristán-Manzano, María, Sánchez-Gilabert, Almudena, Santilli, Giorgia, Galy, Anne, Thrasher, Adrian J., Martin, Francisco

Source: In Molecular Therapy - Methods & Clinical Development 11 December 2020 19:220-235

Key diagnostic markers for autoimmune lymphoproliferative syndrome with molecular genetic diagnosis

Authors: Molnár, Emese ^{1, 2, 3}, Radwan, Nesrine ⁴, Kovács, Gábor ², Andrikovics, Hajnalka ^{2, 5}, Henriquez, Frances ⁶, Zarafov, Anton ⁷, Hayman, Matthew ⁸, Linzner, Daniela ⁹, Thrasher, Adrian J. ¹⁰, Buckland, Matthew ¹, Burns, Siobhan O. ^{7, 11}, Gilmour, Kimberly C. ^{1, 1}

Source: In Blood 22 October 2020 136(17):1933-1945

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Authors: Adhya, Zoe, Alachkar, Hana, Anantharachagan, Ariharan, Antrobus, Richard, Arumugakani, Gururaj, Ashford, Sofie, Astle, William J., Attwood, Anthony, Bacchelli, Chiara, Batista, Joana, Baxendale, Helen E., Bethune, Claire, Bibi, Shahnaz, Bleda, Marta, Boardman, Barbara, Booth, Claire, Bradley, John R., Breen, Gerome, Brown, Matthew, Browning, Michael J., Brownlie, Mary, Buckland, Matthew S., Burns, Siobhan O., Burren, Oliver S., Carss, Keren, Chambers, John, Chandra, Anita, Brod, Naomi Clements, Clifford, Hayley, Cooper, Nichola, Daugherty, Louise C., Davies, E.G., Davies, Sophie, Davis, John, Deacock, Sarah, Deevi, Sri V.V., Dempster, John, Devlin, Lisa A., Dewhurst, Eleanor F., Downes, Kate, Drewe, Elizabeth, Duarte, Daniel, Edgar, J. David M., Edwards, Karen, Egner, William, El-Shanawany, Tariq, Erwood, Marie, Fletcher, Debra, Fox, James, Frary, Amy J., Frontini, Mattia, Furnell, Abigail, Gaspar, H. Bobby, Ghurye, Rohit, Gilmour, Kimberly C., Gleadall, Nicholas S., Goddard, Sarah, Gordins, Pavels, Gräf, Stefan, Grassi, Luigi, Greene, Daniel, Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Haimel, Matthias, Harper, Lorraine, Hayman, Grant, Herwadkar, Archana, Hu, Fengyuan, Hughes, Stephen, Huissoon, Aarnoud P., James, Roger, Jolles, Stephen, Jolley, Jennifer, Jones, Julie, Karim, Yousuf, Kasanicki, Mary A., Kelleher, Peter, Kempster, Carly, Kiani, Sorena, Kingston, Nathalie, Klein, Nigel, Kostadima, Myrto, Kreuzhuber, Roman, Kuijpers, Taco W., Kumararatne, Dinakantha, Laffan, James, Allen, Hana Lango, Lear, Sara E., Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena E., Lyons, Paul A., Maimaris, Jesmeen, Manson, Ania, Mapeta, Rutendo, Martin, Jennifer, McCarthy, Mark I., McDermott, Elizabeth M., McKinney, Harriet, Meacham, Stuart, Megy, Karyn, Millar, Hazel, Mistry, Anoop, Morrisson, Valerie, Murng, Sai H.K., Nasir, Iman, Nejentsev, Sergey, Noorani, Sadia, Oksenhendler, Eric, Ouwehand, Willem H., Papadia, Sofia, Penkett, Christopher J., Petersen, Romina, Ponsford, Mark J., Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Raymond, F. Lucy, Rayner-Matthews, Paula J., Richter, Alex, Samani, Nilesh, Samarghitean, Crina, Sanchis-Juan, Alba, Sargur, Ravishankar B., Savic, Sinisa, Seneviratne, Suranjith L., Sewell, W.A. Carrock, Seyres, Denis, Shackley, Fiona, Shamardina, Olga, Simeoni, Ilenia, Simpson, Michael A., Smith, Kenneth G.C., Staines, Simon, Staples, Emily, Stark, Hannah, Stauss, Hans, Steele, Cathal L., Stephens, Jonathan, Stirrups, Kathleen E., Thaventhiran, James E., Thomas, David, Thomas, Moira J., Thomas, Patrick, Thrasher, Adrian J., Tilly, Tobias, Titterton, Catherine, Treadaway, Paul, Tuna, Salih, Turro, Ernest, Urniaz, Rafal, von Ziegenweidt, Julie, Walker, Neil, Watt, Christopher, Welch, Steven B., Whitehorn, Deborah, Willcocks, Lisa, Wood, Nicholas, Wood, Yvette, Workman, Sarita, Worth, Austen, Yates, Katherine, Yeatman, Nigel, Yong, Patrick F.K., Young, Timothy, Yu, Ping, Zlamalova, Eliska, Lorenzini, Tiziana, Fliegauf, Manfred, Klammer, Nils, Frede, Natalie, Proietti, Michele, Bulashevska, Alla, Camacho-Ordonez, Nadezhda, Varjosalo, Markku, Kinnunen, Matias, de Vries, Esther, van der Meer, Jos W.M., Ameratunga, Rohan, Roifman, Chaim M., Schejter, Yael D., Kobbe, Robin, Hautala, Timo, Atschekzei, Faranaz, Schmidt, Reinhold E., Schröder, Claudia, Stepensky, Polina, Shadur, Bella, Pedroza, Luis A., van der Flier, Michiel, Martínez-Gallo, Mónica, Gonzalez-Granado, Luis Ignacio, Allende, Luis M., Shcherbina, Anna, Kuzmenko, Natalia, Zakharova, Victoria, Neves, João Farela, Svec, Peter, Fischer, Ute, Ip, Winnie, Bartsch, Oliver, Barış, Safa, Klein, Christoph, Geha, Raif, Chou, Janet, Alosaimi, Mohammed, Weintraub, Lauren, Boztug, Kaan, Hirschmugl, Tatjana, Dos Santos Vilela, Maria Marluce, Holzinger, Dirk, Seidl, Maximilian, Lougaris, Vassilios, Plebani, Alessandro, Alsina, Laia, Piquer-Gibert, Monica, Deyà-Martínez, Angela, Slade, Charlotte A., Aghamohammadi, Asghar, Abolhassani, Hassan, Hammarström, Lennart, Kuismin, Outi, Helminen, Merja, Freeman, Alexandra F., Cook, Matthew, Bakhtiar, Shahrzad, Christiansen, Mette, Cunningham-Rundles, Charlotte, Patel, Niraj C., Rae, William, Niehues, Tim, Brauer, Nina, Syrjänen, Jaana, Seppänen, Mikko R.J., Tuijnenburg, Paul, Warnatz, Klaus, Grimbacher, Bodo

Source: In The Journal of Allergy and Clinical Immunology October 2020 146(4):901-911

Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease

Authors: Piras, Giuseppa, Montiel-Equihua, Claudia, Chan, Yee-Ka Agnes, Wantuch, Slawomir, Stuckey, Daniel, Burke, Derek, Prunty, Helen, Phadke, Rahul, Chambers, Darren, Partida-Gaytan, Armando, Leon-Rico, Diego, Panchal, Neelam, Whitmore, Kathryn, Calero, Miguel, Benedetti, Sara, Santilli, Giorgia, Thrasher, Adrian J., Gaspar, H. Bobby

Source: In Molecular Therapy - Methods & Clinical Development 11 September 2020 18:558-570