Search Results - "Leahy, T. Ronan"

Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2 by Klemann, Christian, Camacho-Ordonez, Nadezhda, Yang, Linlin, Eskandarian, Zoya, Rojas-Restrepo, Jessica L, Frede, Natalie, Bulashevska, Alla, Heeg, Maximilian, Al-Ddafari, Moudjahed Saleh, Premm, Julian, Seidl, Maximilian, Ammann, Sandra, Sherkat, Roya, Radhakrishnan, Nita, Warnatz, Klaus, Unger, Susanne, Kobbe, Robin, Hüfner, Anja, Leahy, T Ronan, Ip, Winnie, Burns, Siobhan O, Fliegauf, Manfred, Grimbacher, Bodo

“…Non-canonical NF-κB-pathway signaling is integral in immunoregulation. Heterozygous mutations in have recently been established as a molecular cause of common…”
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Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease by Dorjbal, Batsukh, Stinson, Jeffrey R., Ma, Chi A., Weinreich, Michael A., Miraghazadeh, Bahar, Hartberger, Julia M., Frey-Jakobs, Stefanie, Weidinger, Stephan, Moebus, Lena, Franke, Andre, Schäffer, Alejandro A., Bulashevska, Alla, Fuchs, Sebastian, Ehl, Stephan, Limaye, Sandhya, Arkwright, Peter D., Briggs, Tracy A., Langley, Claire, Bethune, Claire, Whyte, Andrew F., Alachkar, Hana, Nejentsev, Sergey, DiMaggio, Thomas, Nelson, Celeste G., Stone, Kelly D., Nason, Martha, Brittain, Erica H., Oler, Andrew J., Veltri, Daniel P., Leahy, T. Ronan, Conlon, Niall, Poli, Maria C., Borzutzky, Arturo, Cohen, Jeffrey I., Davis, Joie, Lambert, Michele P., Romberg, Neil, Sullivan, Kathleen E., Paris, Kenneth, Freeman, Alexandra F., Lucas, Laura, Chandrakasan, Shanmuganathan, Savic, Sinisa, Hambleton, Sophie, Patel, Smita Y., Jordan, Michael B., Theos, Amy, Lebensburger, Jeffrey, Atkinson, T. Prescott, Torgerson, Troy R., Chinn, Ivan K., Milner, Joshua D., Grimbacher, Bodo, Cook, Matthew C., Snow, Andrew L.

“…Caspase activation and recruitment domain 11 (CARD11) encodes a scaffold protein in lymphocytes that links antigen receptor engagement with downstream…”
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Early-onset autoimmunity associated with SOCS1 haploinsufficiency by Hadjadj, Jérôme, Castro, Carla Noemi, Tusseau, Maud, Stolzenberg, Marie-Claude, Mazerolles, Fabienne, Aladjidi, Nathalie, Armstrong, Martin, Ashrafian, Houman, Cutcutache, Ioana, Ebetsberger-Dachs, Georg, Elliott, Katherine S., Durieu, Isabelle, Fabien, Nicole, Fusaro, Mathieu, Heeg, Maximilian, Schmitt, Yohan, Bras, Marc, Knight, Julian C., Lega, Jean-Christophe, Lesca, Gaetan, Mathieu, Anne-Laure, Moreews, Marion, Moreira, Baptiste, Nosbaum, Audrey, Page, Matthew, Picard, Cécile, Ronan Leahy, T., Rouvet, Isabelle, Ryan, Ethel, Sanlaville, Damien, Schwarz, Klaus, Skelton, Andrew, Viallard, Jean-Francois, Viel, Sebastien, Villard, Marine, Callebaut, Isabelle, Picard, Capucine, Walzer, Thierry, Ehl, Stephan, Fischer, Alain, Neven, Bénédicte, Belot, Alexandre, Rieux-Laucat, Frédéric

“…Autoimmunity can occur when a checkpoint of self-tolerance fails. The study of familial autoimmune diseases can reveal pathophysiological mechanisms involved…”
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Mumps Outbreaks in Vaccinated Populations-Is It Time to Re-assess the Clinical Efficacy of Vaccines? by Connell, Anna R, Connell, Jeff, Leahy, T Ronan, Hassan, Jaythoon

“…History illustrates the remarkable public health impact of mass vaccination, by dramatically improving life expectancy and reducing the burden of infectious…”
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Thymus transplantation for complete DiGeorge syndrome: European experience by Davies, E. Graham, FRCPCH, Cheung, Melissa, BSc, Gilmour, Kimberly, PhD, Maimaris, Jesmeen, MRCPCH, Curry, Joe, FRCS, Furmanski, Anna, PhD, Sebire, Neil, FRCPATH, Halliday, Neil, MB, BSc, Mengrelis, Konstantinos, PhD, Adams, Stuart, PhD, Bernatoniene, Jolanta, MD, Bremner, Ronald, FRCPCH, Browning, Michael, FRCPATH, Devlin, Blythe, PhD, Erichsen, Hans Christian, MD, Gaspar, H. Bobby, PhD, Hutchison, Lizzie, RCN, Ip, Winnie, PhD, Ifversen, Marianne, MD, Leahy, T. Ronan, PhD, McCarthy, Elizabeth, PhD, Moshous, Despina, PhD, Neuling, Kim, FRCPCH, Pac, Malgorzata, MD, Papadopol, Alina, MD, Parsley, Kathryn L., PhD, Poliani, Luigi, PhD, Ricciardelli, Ida, PhD, Sansom, David M., PhD, Voor, Tiia, MD, Worth, Austen, PhD, Crompton, Tessa, PhD, Markert, M. Louise, PhD, Thrasher, Adrian J., PhD

“…Background Thymus transplantation is a promising strategy for the treatment of athymic complete DiGeorge syndrome (cDGS). Methods Twelve patients with cDGS…”
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Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea by Ma, Chi A., Xi, Liqiang, Cauff, Brian, DeZure, Adam, Freeman, Alexandra F., Hambleton, Sophie, Kleiner, Gary, Leahy, T.Ronan, O'Sullivan, Maureen, Makiya, Michelle, O'Regan, Grainne, Pittaluga, Stefania, Niemela, Julie, Stoddard, Jennifer, Rosenzweig, Sergio D., Raffeld, Mark, Klion, Amy D., Milner, Joshua D.

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Aortic Calcification in a Patient with a Gain-of-Function STAT1 Mutation by Smyth, Anna E., Kaleviste, Epp, Snow, Aisling, Kisand, Kai, McMahon, Colin J., Cant, Andrew J., Leahy, T. Ronan

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Anti-N-Methyl-D-Aspartate Receptor Antibody Mediated Neurologic Relapse Post Herpes Simplex Encephalitis: A Case Series by Geoghegan, Sarah, Walsh, Aoibhinn, King, Mary D, Lynch, Bryan, Webb, David, Twomey, Eilish, Leahy, T Ronan, Butler, Karina, Gavin, Patrick

“…Despite the advent of antiviral therapy herpes simplex encephalitis (HSE) remains a devastating condition with significant morbidity and mortality. Neurologic…”
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Altered Toll-Like Receptor Signalling in Children with Down Syndrome by Leahy, T. Ronan, Moreno-Oliveira, Ana, Melo, Ashanty M., Doherty, Derek G., Molloy, Eleanor J., Balfe, Joanne, Roche, Edna, Lagan, Niamh, Ryan, Emer, McGrane, Fiona, Kelly, Lynne, Koay, W. J., Huggard, Dean, Franklin, Orla

“…Toll-like receptors (TLRs) are the key in initiating innate immune responses. TLR2 is crucial in recognising lipopeptides from gram-positive bacteria and is…”
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Haploidentical T-cell alpha beta receptor and CD19–depleted stem cell transplant for Wiskott-Aldrich syndrome by Kharya, Gaurav, MD, Nademi, Zohreh, PhD, Leahy, T. Ronan, MB, MRCPI, Dunn, Janice, Barge, Dawn, PhD, Schulz, Ansgar, MD, Cant, Andrew, MD, Gennery, Andrew, MD, Slatter, Mary, MD

“…The use of HLA-haploidentical family donors requires T-cell depletion to avoid graft-versus-host disease (GVHD), which increases the risk of graft rejection,…”
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Haploidentical CD3 TCRαβ and CD19-depleted second stem cell transplant for steroid-resistant acute skin graft versus host disease by Slatter, Mary, MD, Nademi, Zohreh, PhD, Leahy, T. Ronan, MB, MRCPI, Morillo-Gutierrez, Beatriz, MD, Dunn, Janice, Barge, Dawn, PhD, Skinner, Roderick, PhD, Ryan, Clodagh, MB, MRCPI, FRCPath, Hambleton, Sophie, PhD, Abinun, Mario, PhD, Flood, Terence, MD, Cant, Andrew, MD, Gennery, Andrew, MD

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Increased systemic inflammation in children with Down syndrome by Huggard, Dean, Kelly, Lynne, Ryan, Emer, McGrane, Fiona, Lagan, Niamh, Roche, Edna, Balfe, Joanne, Leahy, T. Ronan, Franklin, Orla, Doherty, Derek G., Molloy, Eleanor J.

“…•Children with DS had increased plasma levels of Epo, VEGF, GM-CSF, IL-10, IL-1ra, IL-6, IL-2.•The cytokine response of peripheral blood leukocytes to LPS was…”
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Molecular identification of phaeohyphomycosis due to Alternaria infectoria in a patient with acute myeloid leukemia—a case report by Leahy, T. Ronan, Punnett, Angela S, Richardson, Susan E, Gharabaghi, Farhad, Wadhwa, Anupma

“…Abstract We report the case of a 15-year old with acute myeloid leukemia who developed breakthrough invasive fungal rhinitis. The fungus was identified as…”
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Human IFNAR2 deficiency: Lessons for antiviral immunity by Duncan, Christopher J A, Mohamad, Siti M B, Young, Dan F, Skelton, Andrew J, Leahy, T Ronan, Munday, Diane C, Butler, Karina M, Morfopoulou, Sofia, Brown, Julianne R, Hubank, Mike, Connell, Jeff, Gavin, Patrick J, McMahon, Cathy, Dempsey, Eugene, Lynch, Niamh E, Jacques, Thomas S, Valappil, Manoj, Cant, Andrew J, Breuer, Judith, Engelhardt, Karin R, Randall, Richard E, Hambleton, Sophie

“…Type I interferon (IFN-α/β) is a fundamental antiviral defense mechanism. Mouse models have been pivotal to understanding the role of IFN-α/β in immunity,…”
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An essential role for the Zn2+ transporter ZIP7 in B cell development by Anzilotti, Consuelo, Swan, David J., Boisson, Bertrand, Deobagkar-Lele, Mukta, Oliveira, Catarina, Chabosseau, Pauline, Engelhardt, Karin R., Xu, Xijin, Chen, Rui, Alvarez, Luis, Berlinguer-Palmini, Rolando, Bull, Katherine R., Cawthorne, Eleanor, Cribbs, Adam P., Crockford, Tanya L., Dang, Tarana Singh, Fearn, Amy, Fenech, Emma J., de Jong, Sarah J., Lagerholm, B. Christoffer, Ma, Cindy S., Sims, David, van den Berg, Bert, Xu, Yaobo, Cant, Andrew J., Kleiner, Gary, Leahy, T. Ronan, de la Morena, M. Teresa, Puck, Jennifer M., Shapiro, Ralph S., van der Burg, Mirjam, Chapman, J. Ross, Christianson, John C., Davies, Benjamin, McGrath, John A., Przyborski, Stefan, Santibanez Koref, Mauro, Tangye, Stuart G., Werner, Andreas, Rutter, Guy A., Padilla-Parra, Sergi, Casanova, Jean-Laurent, Cornall, Richard J., Conley, Mary Ellen, Hambleton, Sophie

“…Despite the known importance of zinc for human immunity, molecular insights into its roles have remained limited. Here we report a novel autosomal recessive…”
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OC33 Altered toll like receptor 2 (TLR2) signalling in children with down syndrome by Huggard, Dean, Kaoy, Wen J, McGrane, Fiona, Roche, Edna, Balfe, Joanne, Lagan, Niamh, Ryan, Emer, Ronan Leahy, T, Franklin, Orla, Doherty, Derek, Molloy, Eleanor

“…BackgroundToll like receptors (TLRs) are key in initiating innate immune responses. TLR2 is crucial in recognising lipopeptides from gram positive bacteria and…”
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Expanding the Spectrum of Post-malaria Neurologic Syndrome in the Pediatric Population by Kernan, Robert J, Gavin, Patrick J, Butler, Karina M, Leahy, T Ronan, Lynch, Bryan, Leonard, Jane

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Viral Bronchiolitis is Associated With Altered Cytokine Gene Expression and Lymphocyte Activation Status by Leahy, T Ronan, McManus, Ross, Doherty, Derek G, Grealy, Robert, Carr, Michael J, Slattery, Dubhfeasa, Ryan, Thomas

“…BACKGROUND:Disease severity in viral bronchiolitis is often difficult to predict at onset, and may be related to the host immune response. Recognizing the…”
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Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea by Petersen, Britt-Sabina, August, Dietrich, Abt, Renate, Alddafari, Moudjahed, Atarod, Lida, Baris, Safa, Bhavsar, Hemant, Brinkert, Florian, Buchta, Mary, Bulashevska, Alla, Chee, Ronnie, Cordeiro, Ana I, Dara, Naghi, Dückers, Gregor, Elmarsafy, Aisha, Frede, Natalie, Galal, Nermeen, Gerner, Patrick, Glocker, Erik-Oliver, Goldacker, Sigune, Hammermann, Jutta, Hasselblatt, Peter, Havlicekova, Zuzana, Hübscher, Katrin, Jesenak, Milos, Karaca, Neslihan E, Karakoc-Aydiner, Elif, Kharaghani, Mahboubeh M, Kilic, Sara S, Kiykim, Ayca, Klein, Christoph, Klemann, Christian, Kobbe, Robin, Kotlarz, Daniel, Laass, Martin W, Leahy, T Ronan, Mesdaghi, Mehrnaz, Mitton, Sally, Neves, João F, Öztürk, Birol, Pereira, Luis F, Rohr, Jan, Restrepo, Jessica L R, Ruzaike, Gunda, Saleh, Nadia, Seneviratne, Suranjith, Senol, Ebru, Speckmann, Carsten, Tegtmeyer, Daniel, Thankam, Paul, van der Werff Ten Bosch, Jutte, von Bernuth, Horst, Zeissig, Sebastian, Zeissig, Yvonne, Franke, Andre, Grimbacher, Bodo

“…In contrast to adult-onset inflammatory bowel disease (IBD), where many genetic loci have been shown to be involved in complex disease etiology, early-onset…”
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VARICELLA ZOSTER VIRUS ASSOCIATED ACUTE ASEPTIC MENINGITIS WITHOUT EXANTHEM IN AN IMMUNOCOMPETENT 14-YEAR-OLD BOY by Leahy, T Ronan, Webb, David W. M, Hoey, Hilary, Butler, Karina M

“…Neurologic complications can occur with varicella-zoster virus (VZV) infection, usually after vesicular exanthem. We report the case of a previously healthy…”
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