Patients with tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) are hypersensitive to Toll-like receptor 9 stimulation

Autor: Elizabeth M. McDermott, Ola H. Negm, W Abduljabbar, Patrick J. Tighe, Lucy C. Fairclough, Paul M. Radford, Elizabeth Drewe, Sonali Singh, Mohamed R. Hamed, Ian Todd

Publikováno v: Clin Exp Immunol

Summary Tumour necrosis factor receptor-associated periodic syndrome (TRAPS) is a hereditary autoinflammatory disorder characterized by recurrent episodes of fever and inflammation. It is associated with autosomal dominant mutations in TNFRSF1A, whic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6ea14307a581ff534cb67654460067e
https://doi.org/10.1111/cei.13306

Characterization of the Clinical and Immunologic Phenotype and Management of 157 Individuals with 56 Distinct Heterozygous NFKB1 Mutations

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

Publikováno v: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Journal of Allergy and Clinical Immunology, 146(4), 901-911. Mosby Inc.
Lorenzini, T, Fliegauf, M, Klammer, N, Frede, N, Proietti, M, Bulashevska, A, Camacho-Ordonez, N, Varjosalo, M, Kinnunen, M, de Vries, E, van der Meer, J W M, Ameratunga, R, Roifman, C M, Schejter, Y D, Kobbe, R, Hautala, T, Atschekzei, F, Schmidt, R E, Schröder, C, Stepensky, P, Shadur, B, Pedroza, L A, van der Flier, M, Martínez-Gallo, M, Gonzalez-Granado, L I, Allende, L M, Shcherbina, A, Kuzmenko, N, Zakharova, V, Neves, J F, Svec, P, Fischer, U, Ip, W, Bartsch, O, Barış, S, Klein, C, Geha, R, Chou, J, Alosaimi, M, Weintraub, L, Boztug, K, Hirschmugl, T, Dos Santos Vilela, M M, Holzinger, D, Seidl, M, Lougaris, V, Plebani, A, Alsina, L, Piquer-Gibert, M, Deyà-Martínez, A, Slade, C A, Aghamohammadi, A, Abolhassani, H, Hammarström, L, Kuismin, O, Helminen, M, Allen, H L, Thaventhiran, J E, Freeman, A F, Cook, M, Bakhtiar, S, Christiansen, M, Cunningham-Rundles, C, Patel, N C, Rae, W, Niehues, T, Brauer, N, Syrjänen, J, Seppänen, M R J, Burns, S O, Tuijnenburg, P, Kuijpers, T W, Warnatz, K, Grimbacher, B & NIHR BioResource 2020, ' Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations ', Journal of Allergy and Clinical Immunology, vol. 146, no. 4, pp. 901-911 . https://doi.org/10.1016/j.jaci.2019.11.051
Lorenzini, T, Fliegauf, M, Klammer, N, Frede, N, Proietti, M, Bulashevska, A, Camacho-Ordonez, N, Varjosalo, M, Kinnunen, M, de Vries, E, van der Meer, J W M, Ameratunga, R, Roifman, C M, Schejter, Y D, Kobbe, R, Hautala, T, Atschekzei, F, Schmidt, R E, Schröder, C, Stepensky, P, Shadur, B, Pedroza, L A, van der Flier, M, Martínez-Gallo, M, Gonzalez-Granado, L I, Allende, L M, Shcherbina, A, Kuzmenko, N, Zakharova, V, Neves, J F, Svec, P, Fischer, U, Ip, W, Bartsch, O, Barış, S, Klein, C, Geha, R, Chou, J, Alosaimi, M, Weintraub, L, Boztug, K, Hirschmugl, T, Dos Santos Vilela, M M, Holzinger, D, Seidl, M, Lougaris, V, Plebani, A, Alsina, L, Christiansen, M & NIHR BioResource 2020, ' Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations ', Journal of Allergy and Clinical Immunology, vol. 146, no. 4, pp. 901-911 . https://doi.org/10.1016/j.jaci.2019.11.051
J Allergy Clin Immunol
Journal of allergy and clinical immunology, 146(4), 901-911. Mosby Inc.
Journal of Allergy and Clinical Immunology, 146, 901-911
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Journal of Allergy and Clinical Immunology, 146, 4, pp. 901-911

Contains fulltext : 229571.pdf (Publisher’s version ) (Closed access) BACKGROUND: An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunologic phenotypes. OBJECTIVE: To characterize the clinical and cellula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24edd7c93abde79c231a292f1382db64

Assessment of suspected immune deficiency in childhood

Autor: Rachael O’Brien, Elizabeth M. McDermott, Lucy Cliffe

Publikováno v: Paediatrics and Child Health. 27:97-101

Primary immune deficiencies in children are rare. However, delay in diagnosis can be associated with morbidity from end organ damage and increased mortality. Secondary immune deficiency especially in the context of immune suppressive therapy is incre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::214853c3de33384d013830eeea1db159
https://doi.org/10.1016/j.paed.2016.10.005

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects

Autor: Scott B. Snapper, Alla Bulashevska, Kjetil Taskén, Michael H. Albert, Virginia Patiño, Fabian Hauck, Stephan Ehl, Peter Olbrich, Charlotte Schwab, Craig D. Platt, Mike Recher, Hanns-Martin Lorenz, Janet Chou, Veronika Kanderova, Veronika Reiser, Tim Niehues, Akihiro Hoshino, Zdenek Sumnik, Tomáš Freiberger, Ulrich Salzer, Olaf Neth, Masatoshi Takagi, Gregor Dückers, Charlotte Cunningham-Rundles, Elizabeth M. McDermott, Raif S. Geha, Talal A. Chatila, Su Bunn, Monika Kurzai, Lisa Giulino-Roth, Gary Unglik, Jamanda A. Haddock, David M. Sansom, Bodo Grimbacher, Natalie Frede, Klaus Warnatz, Laia Alsina, Eva Fronkova, Olivier Elemento, Ansgar Schulz, Annette Schmitt-Graeff, Christina Price, Anna Sediva, Masao Kobayashi, Andre Franke, Florian Emmerich, Jana Pachlopnik Schmid, Satoshi Okada, Richard S. Blumberg, Alan M. Leichtner, Hugo Chapdelaine, Antonios G.A. Kolios, Desirée Schubert, Annemarie Gabrysch, Hirokazu Kanegane, Suranjith L. Seneviratne, Zeynep Yesim Kucuk, Ferran Casals, Alessandro Plebani, Lenka Petruzelkova, Andrew J. Cant, Thomas Giese, Carsten Speckmann, José Manuel Lucena, Seiichi Hayakawa, Jiri Litzman, Angela Deyà-Martínez, Mary Slatter, Maria Kanariou, Kathleen E. Sullivan, Christian Klemann, Maximilian Seidl, Daniel Wolff, Sebastian Zeissig, Vassilios Lougaris, Ingunn Dybedal, Kohsuke Imai, Sophie Hambleton, Frank L. van de Veerdonk, Peter D. Arkwright, Michel Moutschen

Publikováno v: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Journal of Allergy and Clinical Immunology, 142, 6, pp. 1932-1946
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Allergy and Clinical Immunology, 142, 1932-1946

Item does not contain fulltext BACKGROUND: Cytotoxic T-lymphocyte antigen 4 (CTLA-4) is a negative immune regulator. Heterozygous CTLA4 germline mutations can cause a complex immune dysregulation syndrome in human subjects. OBJECTIVE: We sought to ch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bd670d617f3198cb3102d3b682d6e59
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=14351

Novel markers of inflammation identified in tumor necrosis factor receptor-associated periodic syndrome (TRAPS) by transcriptomic analysis of effects of TRAPS-associated tumor necrosis factor receptor type I mutations in an endothelial cell line

Autor: Roel Fiets, Paul M. Radford, Mohammad R. Amel-Kashipaz, Ian Todd, Susana L. Rebelo, Susan E. Bainbridge, Richard J. Powell, Patrick J. Tighe, Johnny Fang, Elizabeth M. McDermott

Publikováno v: Arthritis & Rheumatism. 60:269-280

Objective To analyze the effects of tumor necrosis factor receptor–associated periodic syndrome (TRAPS)–associated mutant tumor necrosis factor receptor type I (TNFRI) expression in a cell type directly relevant to the inflammation in TRAPS, and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d09dff7a4c29f68569c2fd40fee6440
https://doi.org/10.1002/art.24147