المؤلفون: Nuria Sanchez Clemente, Justin Penner, Judith Breuer, Winnie Ip, Claire Booth

المصدر: Frontiers in Immunology, Vol 13 (2022)

مصطلحات موضوعية: primary immunodeficiency, APDS2, SARS-CoV-2, COVID-19, case report, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2022.881259/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/d2c4a7aff504465e9577f90c15c75ead

المؤلفون: Christian Klemann, Nadezhda Camacho-Ordonez, Linlin Yang, Zoya Eskandarian, Jessica L. Rojas-Restrepo, Natalie Frede, Alla Bulashevska, Maximilian Heeg, Moudjahed Saleh Al-Ddafari, Julian Premm, Maximilian Seidl, Sandra Ammann, Roya Sherkat, Nita Radhakrishnan, Klaus Warnatz, Susanne Unger, Robin Kobbe, Anja Hüfner, T. Ronan Leahy, Winnie Ip, Siobhan O. Burns, Manfred Fliegauf, Bodo Grimbacher

المصدر: Frontiers in Immunology, Vol 10 (2019)

مصطلحات موضوعية: CVID, CID, NF-kappaB signaling, DAVID-syndrome, deficiency of anterior pituitary function and variable immunodeficiency, NF-kappaB2 clinical cases, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fimmu.2019.00297/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/a2fc5ecf9ac44a21a75172989f793db7

المؤلفون: Christoph B. Geier, Maryssa Ellison, Rachel Cruz, Sumit Pawar, Alexander Leiss-Piller, Katarina Zmajkovicova, Shannon M McNulty, Melis Yilmaz, Martin Oman Evans, Sumai Gordon, Boglarka Ujhazi, Ivana Wiest, Hassan Abolhassani, Asghar Aghamohammadi, Sara Barmettler, Saleh Bhar, Anastasia Bondarenko, Audrey Anna Bolyard, David Buchbinder, Michaela Cada, Mirta Cavieres, James A. Connelly, David C. Dale, Ekaterina Deordieva, Morna J. Dorsey, Simon B. Drysdale, Stephan Ehl, Reem Elfeky, Francesca Fioredda, Frank Firkin, Elizabeth Förster-Waldl, Bob Geng, Vera Goda, Luis Gonzalez-Granado, Eyal Grunebaum, Elzbieta Grzesk, Sarah E. Henrickson, Anna Hilfanova, Mitsuteru Hiwatari, Chihaya Imai, Winnie Ip, Soma Jyonouchi, Hirokazu Kanegane, Yuta Kawahara, Amer M. Khojah, Vy Hong-Diep Kim, Marina Kojić, Sylwia Kołtan, Gergely Krivan, Daman Langguth, Yu-Lung Lau, Daniel Leung, Maurizio Miano, Irina Mersyanova, Talal Mousallem, Mica Muskat, Flavio A. Naoum, Suzie A. Noronha, Monia Ouederni, Shuichi Ozono, G. Wendell Richmond, Inga Sakovich, Ulrich Salzer, Catharina Schuetz, Filiz Odabasi Seeborg, Svetlana O. Sharapova, Katja Sockel, Alla Volokha, Malte von Bonin, Klaus Warnatz, Oliver Wegehaupt, Geoffrey A. Weinberg, Ke-Juin Wong, Austen Worth, Huang Yu, Yulia Zharankova, Xiaodong Zhao, Lisa Devlin, Adriana Badarau, Krisztian Csomos, Marton Keszei, Joao Pereira, Arthur G Taveras, Sarah L. Beaussant-Cohen, Mei-Sing Ong, Anna Shcherbina, Jolan E. Walter

المصدر: Journal of Clinical Immunology. 42:1748-1765

مصطلحات موضوعية: Receptors, CXCR4, Neutropenia, Agammaglobulinemia, Lymphopenia, Immunology, Immunologic Deficiency Syndromes, Disease Progression, Humans, Immunology and Allergy, Warts

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ec3dbe757488d15524fabc139819f46
https://doi.org/10.1007/s10875-022-01312-7

المؤلفون: Rebekah M Dedrick, Bailey E Smith, Madison Cristinziano, Krista G Freeman, Deborah Jacobs-Sera, Yvonne Belessis, A Whitney Brown, Keira A Cohen, Rebecca M Davidson, David van Duin, Andrew Gainey, Cristina Berastegui Garcia, C R Robert George, Ghady Haidar, Winnie Ip, Jonathan Iredell, Ameneh Khatami, Jessica S Little, Kirsi Malmivaara, Brendan J McMullan, David E Michalik, Andrea Moscatelli, Jerry A Nick, Maria G Tupayachi Ortiz, Hari M Polenakovik, Paul D Robinson, Mikael Skurnik, Daniel A Solomon, James Soothill, Helen Spencer, Peter Wark, Austen Worth, Robert T Schooley, Constance A Benson, Graham F Hatfull

المساهمون: Institut Català de la Salut, [Dedrick RM, Smith BE, Cristinziano M, Freeman KG, Jacobs-Sera D] Department of Biological Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA. [Belessis Y] School of Women’s and Children’s Health, University of New South Wales, Sydney, New South Wales, Australia. Department of Respiratory Medicine, Sydney Children’s Hospital, Sydney, New South Wales, Australia. [Berastegui Garcia C] Servei de Pneumologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Human Microbiome Research, Tutkimusohjelmayksikkö, Mikael Skurnik / Vastuullinen tutkija, HUSLAB, Bakteriologian ja immunologian osasto, Helsingin yliopisto

المصدر: Scientia

مصطلحات موضوعية: Microbiology (medical), infecciones bacterianas y micosis::infecciones bacterianas::infecciones por bacterias grampositivas::infecciones por Actinomycetales::micobacteriosis::infecciones por micobacterias no tuberculosas [ENFERMEDADES], Phage therapy, Mycobacteriophage, Bacterial Infections and Mycoses::Bacterial Infections::Gram-Positive Bacterial Infections::Actinomycetales Infections::Mycobacterium Infections::Mycobacterium Infections, Nontuberculous [DISEASES], Other subheadings::/therapy [Other subheadings], Bacteriòfags, 3121 Yleislääketiede, sisätaudit ja muut kliiniset lääketieteet, Infectious Diseases, terapéutica::terapia biológica::terapia fágica [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Medicaments antibacterians - Ús terapèutic, Therapeutics::Biological Therapy::Phage Therapy [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Micobacteriosis - Tractament, Nontuberculous mycobacteria, Otros calificadores::/terapia [Otros calificadores]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c444fcb1441cf40ae15125338d1d1da
https://hdl.handle.net/11351/9027

المؤلفون: Klaus Warnatz, Kohsuke Imai, Bénédicte Neven, Mette Holm, Ulrich Duffner, B Carpenter, Musa Karakukcu, Hassan Abolhassani, Robert Wynn, Neena Kapoor, Jennifer A. Kanakry, Marina Garcia-Prat, Mariacristina Menconi, Anna Mukhina, Pere Soler-Palacín, Takahiro Tomoda, Claudia Wehr, Diana K. Bayer, Eleonora Gambineri, Gulbu Uzel, Austen Worth, Arunkumar Modi, Mary Slatter, Tania Nicole Masmas, Dimana Dimitrova, Carsten Speckmann, J.J. Bleesing, Shankara Paneesha, Kanchan Rao, Sylwia Kołtan, Carmem Bonfim, Jasmeen Dara, Colin G. Steward, Winnie Ip, Emma C. Morris, Asghar Aghamohammadi, Andrew R. Gennery, Gašper Markelj, Luigi D. Notarangelo, Stephen M. Hughes, Sujal Ghosh, Tsubasa Okano, Ansgar Schulz, Arjan C. Lankester, Stephen Jolles, Ebru Yilmaz, Alexandra Laberko, Maria Elena Maccari, Stephan Ehl, Christopher C. Dvorak, Despina Moshous, Hyoung Jin Kang, Carolina Prando, Zohreh Nademi

المساهمون: Institut Català de la Salut, [Dimitrova D] Experimental Transplantation and Immunotherapy Branch, National Cancer Institute, National Institutes of Health, Bethesda, Md. [Nademi Z] Children’s Bone Marrow Transplant Unit, Great North Children’s Hospital, Newcastle upon Tyne, United Kingdom. The Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom. [Maccari ME, Ehl S] Department of Pediatric Hematology and Oncology, Center for Pediatrics, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Center for Chronic Immunodeficiency, Medical Center—University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. [Uzel G] Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. [Tomoda T] Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan. [Garcia-Prat M, Soler-Palacín P] Unitat de Patologia Infecciosa i Immunodeficiències de Pediatria, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Dimitrova, D, Nademi, Z, Maccari, M E, Ehl, S, Uzel, G, Tomoda, T, Okano, T, Imai, K, Carpenter, B, Ip, W, Rao, K, Worth, A J J, Laberko, A, Mukhina, A, Néven, B, Moshous, D, Speckmann, C, Warnatz, K, Wehr, C, Abolhassani, H, Aghamohammadi, A, Bleesing, J J, Dara, J, Dvorak, C C, Ghosh, S, Kang, H J, Markelj, G, Modi, A, Bayer, D K, Notarangelo, L D, Schulz, A, Garcia-Prat, M, Soler-Palacín, P, Karakükcü, M, Yilmaz, E, Gambineri, E, Menconi, M, Masmas, T N, Holm, M, Bonfim, C, Prando, C, Hughes, S, Jolles, S, Morris, E C, Kapoor, N, Koltan, S, Paneesha, S, Steward, C, Wynn, R, Duffner, U, Gennery, A R, Lankester, A C, Slatter, M & Kanakry, J A 2022, ' International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome ', Journal of Allergy and Clinical Immunology, vol. 149, no. 1, pp. 410-421.e7 . https://doi.org/10.1016/j.jaci.2021.04.036
The Journal of allergy and clinical immunology, vol 149, iss 1
Journal of Allergy and Clinical Immunology, 149(1), 410-421. MOSBY-ELSEVIER
The Journal of allergy and clinical immunology
Dimitrova, D, Nademi, Z, Maccari, M E, Ehl, S, Uzel, G, Tomoda, T, Okano, T, Imai, K, Carpenter, B, Ip, W, Rao, K, Worth, A J J, Laberko, A, Mukhina, A, Néven, B, Moshous, D, Speckmann, C, Warnatz, K, Wehr, C, Abolhassani, H, Aghamohammadi, A, Bleesing, J J, Dara, J, Dvorak, C C, Ghosh, S, Kang, H J, Markelj, G, Modi, A, Bayer, D K, Notarangelo, L D, Schulz, A, Garcia-Prat, M, Soler-Palacín, P, Karakükcü, M, Yilmaz, E, Gambineri, E, Menconi, M, Masmas, T N, Holm, M, Bonfim, C, Prando, C, Hughes, S, Jolles, S, Morris, E C, Kapoor, N, Koltan, S, Paneesha, S, Steward, C, Wynn, R, Duffner, U, Gennery, A R, Lankester, A C, Slatter, M & Kanakry, J A 2022, ' International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome ', The Journal of allergy and clinical immunology, vol. 149, no. 1, pp. 410-421.e7 . https://doi.org/10.1016/j.jaci.2021.04.036
Scientia

مصطلحات موضوعية: Graft Rejection, Male, 0301 basic medicine, Oncology, Allergy, lymphoproliferation, mTOR inhibitor, Kaplan-Meier Estimate, Regenerative Medicine, Phosphatidylinositol 3-Kinases, 0302 clinical medicine, hemic and lymphatic diseases, Immunology and Allergy, Cumulative incidence, Child, Otros calificadores::/terapia [Otros calificadores], Immunodeficiency, Cancer, Primary immunodeficiency, Hematopoietic Stem Cell Transplantation, MTOR Inhibitors, Hematology, Middle Aged, Síndromes de deficiència immunitària - Tractament, enfermedades del sistema inmune::síndromes de inmunodeficiencia [ENFERMEDADES], Treatment Outcome, surgical procedures, operative, Child, Preschool, Immune System Diseases::Immunologic Deficiency Syndromes [DISEASES], Female, terapéutica::terapia biológica::tratamientos basados en células y tejidos::trasplante de células::trasplante de células madre::trasplante de células madre hematopoyéticas [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Homologous, Adult, medicine.medical_specialty, activated phosphoinositide 3-kinase delta syndrome, Adolescent, Class I Phosphatidylinositol 3-Kinases, Primary Immunodeficiency Diseases, graft failure, Immunology, serotherapy, Activated PI3K-delta syndrome, Context (language use), Article, Young Adult, 03 medical and health sciences, Rare Diseases, Internal medicine, medicine, Transplantation, Homologous, Humans, Preschool, Retrospective Studies, Aged, Transplantation, allogeneic hematopoietic cell transplantation, Cèl·lules mare hematopoètiques - Trasplantació, business.industry, diagnóstico::pronóstico::resultado del tratamiento [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Retrospective cohort study, Other subheadings::/therapy [Other subheadings], Diagnosis::Prognosis::Treatment Outcome [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], medicine.disease, 030104 developmental biology, Graft-versus-host disease, allogeneic hemato-poietic cell transplantation, Avaluació de resultats (Assistència sanitària), Therapeutics::Biological Therapy::Cell- and Tissue-Based Therapy::Cell Transplantation::Stem Cell Transplantation::Hematopoietic Stem Cell Transplantation [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], business, 030215 immunology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fff24621d0b56e0aaf43e9d30b95d29e
https://hdl.handle.net/1887/3277790

المؤلفون: Melanie Wong, Danielle T. Avery, Ismail Reisli, Matÿfffedas M. Oleastro, David Zahra, Winnie Ip, Stuart G. Tangye, Cindy S. Ma, Imogen Moran, Siobhan O. Burns, Robert Brink, Kathryn Payne, Elissa K. Deenick, E. Graham Davies, Şükrü Nail Güner, Christopher C. Goodnow, Sevgi Keles, Tri Giang Phan, Luigi D. Notarangelo, Helen Lenthall

المصدر: Journal of Allergy and Clinical Immunology. 143:2302-2305

مصطلحات موضوعية: Mice, Knockout, B-Lymphocytes, Immunology, Intracellular Signaling Peptides and Proteins, Protein Serine-Threonine Kinases, Biology, Immunity, Humoral, medicine.anatomical_structure, Immunity, Mutation, Humoral immunity, Mutation (genetic algorithm), medicine, Animals, Humans, Immunology and Allergy, B cell

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::879ab4843caa435f42448e4efb71aee0
https://doi.org/10.1016/j.jaci.2019.02.010

المؤلفون: Sofie E. Jørgensen, Pärt Peterson, Lili Milani, E. Graham Davies, Vincent Bondet, Mario Saare, Darragh Duffy, Epp Kaleviste, Sascha Sauer, Timothy Ronan Leahy, Helke Nurm, Trine H. Mogensen, Ann-Christine Syvänen, Kai Kisand, Winnie Ip

المساهمون: University of Tartu, Our Lady's Children's Hospital Crumlin (OLCHC), Immunobiologie des Cellules dendritiques, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Aarhus University [Aarhus], Aarhus University Hospital, Tallinn Children's Hospital [Tallinn, Estonia], Great Ormond Street Hospital for Children [London] (GOSH), Max Planck Institute for Molecular Genetics (MPIMG), Max-Planck-Gesellschaft, Max Delbrück Center for Molecular Medicine [Berlin] (MDC), Helmholtz-Gemeinschaft = Helmholtz Association, Uppsala University, The research was funded by the European Union through the European Regional Development Fund (Project No 2014–2020.4.01.15‐0012), by Estonian Research Council (grants PUT1367 for KK, IUT 2‐2 for PP), and by [FP7/2007‐2013] under grant agreement number n° 262055 (ESGI). D. Duffy acknowledges support from the ANR (CE17001002) and Immunoqure for provision of mAbs for Simoa., European Project: 262055,EC:FP7:INFRA,FP7-INFRASTRUCTURES-2010-1,ESGI(2011), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), ANR-16-CE17-0005,GENMSMD,Dissection génétique de la Susceptibilité Mendélienne aux infections mycobactériennes chez l'homme(2016), ANR-16-CE17-0010,IFNX,Investigation des interferonopathies type I humaine(2016)

المصدر: European Journal of Immunology
European Journal of Immunology, Wiley-VCH Verlag, 2019, 49 (5), pp.790-800. ⟨10.1002/eji.201847955⟩
European Journal of Immunology, 2019, 49 (5), pp.790-800. ⟨10.1002/eji.201847955⟩
Kaleviste, E, Saare, M, Leahy, T R, Bondet, V, Duffy, D, Mogensen, T H, Jørgensen, S E, Nurm, H, Ip, W, Davies, E G, Sauer, S, Syvänen, A C, Milani, L, Peterson, P & Kisand, K 2019, ' Interferon signature in patients with STAT1 gain-of-function mutation is epigenetically determined ', European Journal of Immunology, vol. 49, no. 5, pp. 790-800 . https://doi.org/10.1002/eji.201847955

مصطلحات موضوعية: STAT3 Transcription Factor, 0301 basic medicine, Immunology, chronic mucocutaneous candidiasis, Biology, Epigenesis, Genetic, 03 medical and health sciences, 0302 clinical medicine, Interferon, STAT1 gain-of-function mutation, medicine, Humans, Immunology and Allergy, Genetic Predisposition to Disease, Epigenetics, Phosphorylation, epigenetics, Janus kinase 1, Chromatin binding, autoimmunity, Candidiasis, Chronic Mucocutaneous, 3. Good health, Chromatin, Intracellular signal transduction, STAT1 Transcription Factor, 030104 developmental biology, Gene Expression Regulation, Case-Control Studies, Gain of Function Mutation, Cancer research, type I interferon, [SDV.IMM]Life Sciences [q-bio]/Immunology, Chromatin Immunoprecipitation Sequencing, H3K4me3, Interferons, Chromatin immunoprecipitation, Protein Binding, Signal Transduction, 030215 immunology, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7241a08a3e35fd5f18a6d6351b71d905
https://doi.org/10.1002/eji.201847955

المؤلفون: 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

المساهمون: Tranzo, Scientific center for care and wellbeing, Huisarts & Ziekenhuis, 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., Schroeder, Claudia, Stepensky, Polina, Shadur, Bella, Pedroza, Luis A., van der Flier, Michiel, Martinez-Gallo, Monica, Ignacio Gonzalez-Granado, Luis, Allende, Luis M., Shcherbina, Anna, Kuzmenko, Natalia, Zakharova, Victoria, Neves, Joao Farela, Svec, Peter, Fischer, Ute, Ip, Winnie, Bartsch, Oliver, Baris, 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, Deya-Martinez, Angela, Slade, Charlotte A., Aghamohammadi, Asghar, Abolhassani, Hassan, Hammarstrom, Lennart, Kuismin, Outi, Helminen, Merja, Allen, Hana Lango, Thaventhiran, James E., Freeman, Alexandra F., Cook, Matthew, Bakhtiar, Shahrzad, Christiansen, Mette, Cunningham-Rundles, Charlotte, Patel, Niraj C., Rae, William, Niehues, Tim, Brauer, Nina, Syrjanen, Jaana, Seppanen, Mikko R. J., Burns, Siobhan O., Tuijnenburg, Paul, Kuijpers, Taco W., Warnatz, Klaus, Grimbacher, Bodo, Experimental Immunology, Graduate School, AII - Inflammatory diseases, Paediatric Infectious Diseases / Rheumatology / Immunology, ARD - Amsterdam Reproduction and Development, Molecular Systems Biology, Institute of Biotechnology, University of Helsinki, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, Children's Hospital, HUS Children and Adolescents, Clinicum, Department of Medicine, Pediatric surgery

المصدر: 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

مصطلحات موضوعية: 0301 basic medicine, Male, NF-KAPPA-B, Medizin, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Fluorescent Antibody Technique, Autoimmunity, Disease, NUCLEAR-FACTOR, Kaplan-Meier Estimate, medicine.disease_cause, Hypogammaglobulinemia, 0302 clinical medicine, NFKB1 variants and mutations, autosomal dominant inheritance, common variable immunodeficiency, reduced penetrance, variable expressivity, HDE PED, Immunology and Allergy, variants and mutations, NF-κB1-related phenotype, Immunodeficiency, IMMUNODEFICIENCY, NF-?B1-related phenotype, 1184 Genetics, developmental biology, physiology, Disease Management, Middle Aged, NF-kappa B1-related phenotype, Prognosis, Penetrance, Immunohistochemistry, Magnetic Resonance Imaging, 3. Good health, Phenotype, NFKB1 variant, Female, Haploinsufficiency, NFKB1 mutation, Adult, Heterozygote, Immunology, HAPLOINSUFFICIENCY, Article, 03 medical and health sciences, autosomal dominant, medicine, Humans, Genetic Predisposition to Disease, Genetic Association Studies, Aged, business.industry, Common variable immunodeficiency, NF-kappa B p50 Subunit, NF-KAPPA-B1, Immune dysregulation, medicine.disease, 030104 developmental biology, Biological Variation, Population, CELLS, Mutation, Primary immunodeficiency, 3111 Biomedicine, business, Tomography, X-Ray Computed, Biomarkers, 030215 immunology

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المؤلفون: Ebru Yilmaz, Alexandra Laberko, Arjan C. Lankester, Zohreh Nademi, Claudia Wehr, Hyoung Jin Kang, Maria Elena Maccari, Anna Mukhina, Hassan Abolhassani, Pere Soler-Palacín, Ansgar Schulz, Jennifer A. Kanakry, Marina Garcia-Prat, Mary Slatter, Jack J. Bleesing, Christopher C. Dvorak, Musa Kurakukcu, Kanchan Rao, Winnie Ip, Dimana Dimitrova, Jasmeen Dara, Asghar Aghamohammadi, Andrew R. Gennery, Carsten Speckmann, Gašper Markelj, Luigi D. Notarangelo, Sujal Ghosh, Diana K. Bayer, Gulbu Uzel, Arunkumar Modi, Stephan Ehl, Austen Worth

المصدر: Biology of Blood and Marrow Transplantation. 26:S14-S15

مصطلحات موضوعية: Oncology, Transplantation, medicine.medical_specialty, Neutrophil Engraftment, business.industry, Retrospective cohort study, Hematology, Human leukocyte antigen, Disease, medicine.disease, surgical procedures, operative, Internal medicine, Toxicity, medicine, Cumulative incidence, business, B-cell lymphoma

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https://doi.org/10.1016/j.bbmt.2019.12.079

المؤلفون: Mark W. Lowdell, Winnie Ip, Shreenal Patel, Claire Horlock, Arindam Mitra, Shristi Bhandari, Katy Newton, Marco A. Purbhoo, Amanda Skulte, Alka Stansfield, Waseem Qasim, Anke Friedetzky

المصدر: Cytotherapy. 18:1209-1218

مصطلحات موضوعية: Cancer Research, Adenoviridae Infections, T-Lymphocytes, viruses, CD3, T cell, medicine.medical_treatment, Immunology, Cell Culture Techniques, Hematopoietic stem cell transplantation, Peripheral blood mononuclear cell, Adenoviridae, Immunophenotyping, Cell therapy, 03 medical and health sciences, 0302 clinical medicine, Interferon, medicine, Humans, Immunology and Allergy, Cytotoxic T cell, Potency, Genetics (clinical), Transplantation, biology, business.industry, Hematopoietic Stem Cell Transplantation, virus diseases, Cell Biology, medicine.anatomical_structure, Oncology, 030220 oncology & carcinogenesis, biology.protein, Immunotherapy, business, 030215 immunology, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::402c8efb6434dd3182079e3dd80bb92b
https://doi.org/10.1016/j.jcyt.2016.06.009