5 results on '"Sowerby, John M."'
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2. EROS is a selective chaperone regulating the phagocyte NADPH oxidase and purinergic signalling
- Author
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Randzavola, Lyra O, primary, Mortimer, Paige M, primary, Garside, Emma, additional, Dufficy, Elizabeth R, additional, Schejtman, Andrea, additional, Roumelioti, Georgia, additional, Yu, Lu, additional, Pardo, Mercedes, additional, Spirohn, Kerstin, additional, Tolley, Charlotte, additional, Brandt, Cordelia, additional, Harcourt, Katherine, additional, Nichols, Esme, additional, Nahorski, Mike, additional, Woods, Geoff, additional, Williamson, James C, additional, Suresh, Shreehari, additional, Sowerby, John M, additional, Matsumoto, Misaki, additional, Santos, Celio XC, additional, Kiar, Cher Shen, additional, Mukhopadhyay, Subhankar, additional, Rae, William M, additional, Dougan, Gordon J, additional, Grainger, John, additional, Lehner, Paul J, additional, Calderwood, Michael A, additional, Choudhary, Jyoti, additional, Clare, Simon, additional, Speak, Anneliese, additional, Santilli, Giorgia, additional, Bateman, Alex, additional, Smith, Kenneth GC, additional, Magnani, Francesca, additional, and Thomas, David C, additional
- Published
- 2022
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3. Author response: EROS is a selective chaperone regulating the phagocyte NADPH oxidase and purinergic signalling
- Author
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Randzavola, Lyra O, primary, Mortimer, Paige M, primary, Garside, Emma, additional, Dufficy, Elizabeth R, additional, Schejtman, Andrea, additional, Roumelioti, Georgia, additional, Yu, Lu, additional, Pardo, Mercedes, additional, Spirohn, Kerstin, additional, Tolley, Charlotte, additional, Brandt, Cordelia, additional, Harcourt, Katherine, additional, Nichols, Esme, additional, Nahorski, Mike, additional, Woods, Geoff, additional, Williamson, James C, additional, Suresh, Shreehari, additional, Sowerby, John M, additional, Matsumoto, Misaki, additional, Santos, Celio XC, additional, Kiar, Cher Shen, additional, Mukhopadhyay, Subhankar, additional, Rae, William M, additional, Dougan, Gordon J, additional, Grainger, John, additional, Lehner, Paul J, additional, Calderwood, Michael A, additional, Choudhary, Jyoti, additional, Clare, Simon, additional, Speak, Anneliese, additional, Santilli, Giorgia, additional, Bateman, Alex, additional, Smith, Kenneth GC, additional, Magnani, Francesca, additional, and Thomas, David C, additional
- Published
- 2022
- Full Text
- View/download PDF
4. Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations
- Author
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Rae, William, primary, Sowerby, John M., additional, Verhoeven, Dorit, additional, Youssef, Mariam, additional, Kotagiri, Prasanti, additional, Savinykh, Natalia, additional, Coomber, Eve L., additional, Boneparth, Alexis, additional, Chan, Angela, additional, Gong, Chun, additional, Jansen, Machiel H., additional, du Long, Romy, additional, Santilli, Giorgia, additional, Simeoni, Ilenia, additional, Stephens, Jonathan, additional, Wu, Kejia, additional, Zinicola, Marta, additional, Allen, Hana Lango, additional, Baxendale, Helen, additional, Kumararatne, Dinakantha, additional, Gkrania-Klotsas, Effrossyni, additional, Scheffler Mendoza, Selma C., additional, Yamazaki-Nakashimada, Marco Antonio, additional, Ruiz, Laura Berrón, additional, Rojas-Maruri, Cesar Mauricio, additional, Lugo Reyes, Saul O., additional, Lyons, Paul A., additional, Williams, Anthony P., additional, Hodson, Daniel J., additional, Bishop, Gail A., additional, Thrasher, Adrian J., additional, Thomas, David C., additional, Murphy, Michael P., additional, Vyse, Timothy J., additional, Milner, Joshua D., additional, Kuijpers, Taco W., additional, and Smith, Kenneth G. C., additional
- Published
- 2022
- Full Text
- View/download PDF
5. Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations
- Author
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William Rae, John M. Sowerby, Dorit Verhoeven, Mariam Youssef, Prasanti Kotagiri, Natalia Savinykh, Eve L. Coomber, Alexis Boneparth, Angela Chan, Chun Gong, Machiel H. Jansen, Romy du Long, Giorgia Santilli, Ilenia Simeoni, Jonathan Stephens, Kejia Wu, Marta Zinicola, Hana Lango Allen, Helen Baxendale, Dinakantha Kumararatne, Effrossyni Gkrania-Klotsas, Selma C. Scheffler Mendoza, Marco Antonio Yamazaki-Nakashimada, Laura Berrón Ruiz, Cesar Mauricio Rojas-Maruri, Saul O. Lugo Reyes, Paul A. Lyons, Anthony P. Williams, Daniel J. Hodson, Gail A. Bishop, Adrian J. Thrasher, David C. Thomas, Michael P. Murphy, Timothy J. Vyse, Joshua D. Milner, Taco W. Kuijpers, Kenneth G. C. Smith, Pathology, Rae, William [0000-0003-0095-2514], Sowerby, John M [0000-0001-6119-6965], Youssef, Mariam [0000-0002-9616-2172], Savinykh, Natalia [0000-0003-3929-2760], Coomber, Eve L [0000-0002-7093-2263], du Long, Romy [0000-0001-9679-1182], Santilli, Giorgia [0000-0003-1776-1984], Simeoni, Ilenia [0000-0001-5039-2194], Stephens, Jonathan [0000-0003-2020-9330], Wu, Kejia [0000-0002-7700-2907], Zinicola, Marta [0000-0002-3546-3297], Allen, Hana Lango [0000-0002-7803-8688], Baxendale, Helen [0000-0003-3838-3900], Kumararatne, Dinakantha [0000-0001-8438-4686], Gkrania-Klotsas, Effrossyni [0000-0002-0930-8330], Scheffler Mendoza, Selma C [0000-0001-6548-5721], Yamazaki-Nakashimada, Marco Antonio [0000-0002-7609-3923], Ruiz, Laura Berrón [0000-0002-3290-8705], Lugo Reyes, Saul O [0000-0002-3730-4150], Lyons, Paul A [0000-0001-7035-8997], Hodson, Daniel J [0000-0001-6225-2033], Bishop, Gail A [0000-0002-1291-5078], Thrasher, Adrian J [0000-0002-6097-6115], Thomas, David C [0000-0002-9738-2329], Murphy, Michael P [0000-0003-1115-9618], Kuijpers, Taco W [0000-0002-7421-3370], Smith, Kenneth GC [0000-0003-3829-4326], Apollo - University of Cambridge Repository, Graduate School, Paediatrics, Paediatric Infectious Diseases / Rheumatology / Immunology, AII - Inflammatory diseases, and ARD - Amsterdam Reproduction and Development
- Subjects
B-Lymphocytes ,TNF Receptor-Associated Factor 3 ,Neoplasms ,Immunology ,Mutation ,Humans ,Autoimmunity ,General Medicine - Abstract
Tumor necrosis factor receptor–associated factor 3 (TRAF3) is a central regulator of immunity. TRAF3 is often somatically mutated in B cell malignancies, but its role in human immunity is not defined. Here, in five unrelated families, we describe an immune dysregulation syndrome of recurrent bacterial infections, autoimmunity, systemic inflammation, B cell lymphoproliferation, and hypergammaglobulinemia. Affected individuals each had monoallelic mutations in TRAF3 that reduced TRAF3 expression. Immunophenotyping showed that patients’ B cells were dysregulated, exhibiting increased nuclear factor-κB 2 activation, elevated mitochondrial respiration, and heightened inflammatory responses. Patients had mild CD4 + T cell lymphopenia, with a reduced proportion of naïve T cells but increased regulatory T cells and circulating T follicular helper cells. Guided by this clinical phenotype, targeted analyses demonstrated that common genetic variants, which also reduce TRAF3 expression, are associated with an increased risk of B cell malignancies, systemic lupus erythematosus, higher immunoglobulin levels, and bacterial infections in the wider population. Reduced TRAF3 conveys disease risks by driving B cell hyperactivity via intrinsic activation of multiple intracellular proinflammatory pathways and increased mitochondrial respiration, with a likely contribution from dysregulated T cell help. Thus, we define monogenic TRAF3 haploinsufficiency syndrome and demonstrate how common TRAF3 variants affect a range of human diseases.
- Published
- 2022
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