Search Results - "CANT, Andrew J"

The Treatment of Activated PI3Kδ Syndrome by Coulter, Tanya I, Cant, Andrew J

“…Activated phosphoinositide 3-kinase δ syndrome (APDS), also known as PASLI disease (p110d-activating mutation causing senescent T cells, lymphadenopathy, and…”
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Germline TET2 loss of function causes childhood immunodeficiency and lymphoma by Stremenova Spegarova, Jarmila, Lawless, Dylan, Mohamad, Siti Mardhiana Binti, Engelhardt, Karin R., Doody, Gina, Shrimpton, Jennifer, Rensing-Ehl, Anne, Ehl, Stephan, Rieux-Laucat, Frederic, Cargo, Catherine, Griffin, Helen, Mikulasova, Aneta, Acres, Meghan, Morgan, Neil V., Poulter, James A., Sheridan, Eamonn G., Chetcuti, Philip, O'Riordan, Sean, Anwar, Rashida, Carter, Clive R., Przyborski, Stefan, Windebank, Kevin, Cant, Andrew J., Lako, Majlinda, Bacon, Chris M., Savic, Sinisa, Hambleton, Sophie

“…Molecular dissection of inborn errors of immunity can help to elucidate the nonredundant functions of individual genes. We studied 3 children with an immune…”
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Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: Entering a new century, do we do better? by Gennery, Andrew R., MD, Slatter, Mary A., MD, Grandin, Laure, MSc, Taupin, Pierre, MD, Cant, Andrew J., FRCP, Veys, Paul, FRCP, Amrolia, Persis J., FRCP, Gaspar, H. Bobby, PhD, Davies, E. Graham, FRCPCH, Friedrich, Wilhelm, PhD, Hoenig, Manfred, MD, Notarangelo, Luigi D., MD, Mazzolari, Evelina, MD, Porta, Fulvio, MD, Bredius, Robbert G.M., PhD, Lankester, Arjen C., PhD, Wulffraat, Nico M., PhD, Seger, Reinhard, MD, Güngör, Tayfun, MD, Fasth, Anders, PhD, Sedlacek, Petr, PhD, Neven, Benedicte, MD, Blanche, Stephane, MD, Fischer, Alain, PhD, Cavazzana-Calvo, Marina, PhD, Landais, Paul, PhD

“…Background Hematopoietic stem cell transplantation remains the only treatment for most patients with severe combined immunodeficiencies (SCIDs) or other…”
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STAT2 deficiency and susceptibility to viral illness in humans by Hambleton, Sophie, Goodbourn, Stephen, Young, Dan F., Dickinson, Paul, Mohamad, Siti M. B., Valappil, Manoj, McGovern, Naomi, Cant, Andrew J., Hackett, Scott J., Ghazal, Peter, Morgan, Neil V., Randall, Richard E.

“…Severe infectious disease in children may be a manifestation of primary immunodeficiency. These genetic disorders represent important experiments of nature…”
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Clinical outcome in children with chronic granulomatous disease managed conservatively or with hematopoietic stem cell transplantation by Cole, Theresa, BM, Pearce, Mark S., PhD, Cant, Andrew J., MD, Cale, Catherine M., PhD, Goldblatt, David, PhD, Gennery, Andrew R., MD

“…Background Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by serious infections and inflammation. It can be managed…”
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Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome by Nademi, Zohreh, PhD, Slatter, Mary A., MD, Dvorak, Christopher C., MD, Neven, Benedicte, PhD, Fischer, Alain, MD, Suarez, Felipe, MD, Booth, Claire, MD, Rao, Kanchan, MD, Laberko, Alexandra, MD, Rodina, Julia, MD, Bertrand, Yves, MD, Kołtan, Sylwia, MD, Dębski, Robert, MD, Flood, Terence, MD, Abinun, Mario, MD, Gennery, Andrew R., MD, Hambleton, Sophie, DPhil, Ehl, Stephan, MD, Cant, Andrew J., MD

“…The precise indications and optimal time point for HSCT need to be defined.\n5 MMF/Abatacept France (Lyon)Patient 8 10 M Sinopulmonary…”
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Hematopoietic stem cell transplantation for CTLA4 deficiency by Slatter, Mary A., MD, Engelhardt, Karin R., PhD, Burroughs, Lauri M., MD, Arkwright, Peter D., DPhil, Nademi, Zohreh, PhD, Skoda-Smith, Suzanne, MD, Hagin, David, PhD, Kennedy, Alan, PhD, Barge, Dawn, PhD, Flood, Terence, MD, Abinun, Mario, PhD, Wynn, Robert F., MD, Gennery, Andrew R., MD, Cant, Andrew J., MD, Sansom, David, PhD, Hambleton, Sophie, DPhil, Torgerson, Troy R., MD

“…Patient 4 (sibling to patient 3) was well until he presented with inflammatory colitis and Hodgkin lymphoma (inguinal and para-aortic region) at age 16 years…”
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Biallelic mutations in IRF8 impair human NK cell maturation and function by Mace, Emily M, Bigley, Venetia, Gunesch, Justin T, Chinn, Ivan K, Angelo, Laura S, Care, Matthew A, Maisuria, Sheetal, Keller, Michael D, Togi, Sumihito, Watkin, Levi B, LaRosa, David F, Jhangiani, Shalini N, Muzny, Donna M, Stray-Pedersen, Asbjørg, Coban Akdemir, Zeynep, Smith, Jansen B, Hernández-Sanabria, Mayra, Le, Duy T, Hogg, Graham D, Cao, Tram N, Freud, Aharon G, Szymanski, Eva P, Savic, Sinisa, Collin, Matthew, Cant, Andrew J, Gibbs, Richard A, Holland, Steven M, Caligiuri, Michael A, Ozato, Keiko, Paust, Silke, Doody, Gina M, Lupski, James R, Orange, Jordan S

“…Human NK cell deficiencies are rare yet result in severe and often fatal disease, particularly as a result of viral susceptibility. NK cells develop from…”
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Proposed Therapeutic Range of Treosulfan in Reduced Toxicity Pediatric Allogeneic Hematopoietic Stem Cell Transplant Conditioning: Results From a Prospective Trial by Chiesa, Robert, Standing, Joseph F., Winter, Robert, Nademi, Zohreh, Chu, Jan, Pinner, Danielle, Kloprogge, Frank, McLellen, Susan, Amrolia, Persis J., Rao, Kanchan, Lucchini, Giovanna, Silva, Juliana, Ciocarlie, Oana, Lazareva, Arina, Gennery, Andrew R., Doncheva, Bilyana, Cant, Andrew J., Hambleton, Sophie, Flood, Terence, Rogerson, Elizabeth, Devine, Kirsty, Prunty, Helen, Heales, Simon, Veys, Paul, Slatter, Mary

“…Treosulfan is given off‐label in pediatric allogeneic hematopoietic stem cell transplant. This study investigated treosulfan's pharmacokinetics (PKs),…”
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Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of PIK3CD -encoded phosphoinositide 3-kinase δ by Swan, David J, Aschenbrenner, Dominik, Lamb, Christopher A, Chakraborty, Krishnendu, Clark, Jonathan, Pandey, Sumeet, Engelhardt, Karin R, Chen, Rui, Cavounidis, Athena, Ding, Yuchun, Krasnogor, Natalio, Carey, Christopher D, Acres, Meghan, Needham, Stephanie, Cant, Andrew J, Arkwright, Peter D, Chandra, Anita, Okkenhaug, Klaus, Uhlig, Holm H, Hambleton, Sophie

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Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib by Al Shehri, Tariq, Gilmour, Kimberly, Gothe, Florian, Loughlin, Sam, Bibi, Shahnaz, Rowan, Andrew D., Grainger, Angela, Mohanadas, Thivytra, Cant, Andrew J., Slatter, Mary A., Hambleton, Sophie, Lilic, Desa, Leahy, Timothy R.

“…Mutations in the coiled-coil and DNA-binding domains of STAT1 lead to delayed STAT1 dephosphorylation and subsequently gain-of-function. The associated…”
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Hematopoietic Cell Transplantation Ameliorates Autoinflammation in A20 Haploinsufficiency by Shiraki, Mayuka, Williams, Eleri, Yokoyama, Norifumi, Shinoda, Kunihiro, Nademi, Zohreh, Matsumoto, Kana, Nihira, Hiroshi, Honda, Yoshitaka, Izawa, Kazushi, Nishikomori, Ryuta, Slatter, Mary A., Cant, Andrew J., Gennery, Andrew R., Ohnishi, Hidenori, Kanegane, Hirokazu

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Allele-level HLA matching for umbilical cord blood transplantation for non-malignant diseases in children: a retrospective analysis by Eapen, Mary, Prof, Wang, Tao, PhD, Veys, Paul A, Prof, Boelens, Jaap J, MD, Martin, Andrew St, MS, Spellman, Stephen, MBS, Bonfim, Carmem Sales, MD, Brady, Colleen, BS, Cant, Andrew J, Prof, Dalle, Jean-Hugues, Prof, Davies, Stella M, Prof, Freeman, John, BS, Hsu, Katherine C, Prof, Fleischhauer, Katharina, Prof, Kenzey, Chantal, CRA, Kurtzberg, Joanne, Prof, Michel, Gerard, Prof, Orchard, Paul J, Prof, Paviglianiti, Annalisa, MD, Rocha, Vanderson, Prof, Veneris, Michael R, Prof, Volt, Fernanda, MSc, Wynn, Robert, Prof, Lee, Stephanie J, Prof, Horowitz, Mary M, Prof, Gluckman, Eliane, Prof, Ruggeri, Annalisa, MD

“…Summary Background The standard for selecting unrelated umbilical cord blood units for transplantation for non-malignant diseases relies on antigen-level…”
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Dual Proteolytic Pathways Govern Glycolysis and Immune Competence by Lu, Wei, Zhang, Yu, McDonald, David O., Jing, Huie, Carroll, Bernadette, Robertson, Nic, Zhang, Qian, Griffin, Helen, Sanderson, Sharon, Lakey, Jeremy H., Morgan, Neil V., Reynard, Louise N., Zheng, Lixin, Murdock, Heardley M., Turvey, Stuart E., Hackett, Scott J., Prestidge, Tim, Hall, Julie M., Cant, Andrew J., Matthews, Helen F., Koref, Mauro F. Santibanez, Simon, Anna Katharina, Korolchuk, Viktor I., Lenardo, Michael J., Hambleton, Sophie, Su, Helen C.

“…Proteasomes and lysosomes constitute the major cellular systems that catabolize proteins to recycle free amino acids for energy and new protein synthesis…”
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Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation by Ozsahin, Hulya, Cavazzana-Calvo, Marina, Notarangelo, Luigi D., Schulz, Ansgar, Thrasher, Adrian J., Mazzolari, Evelina, Slatter, Mary A., Le Deist, Francoise, Blanche, Stephane, Veys, Paul, Fasth, Anders, Bredius, Robbert, Sedlacek, Petr, Wulffraat, Nico, Ortega, Juan, Heilmann, Carsten, O’Meara, Anne, Wachowiak, Jacek, Kalwak, Krzysztof, Matthes-Martin, Susanne, Gungor, Tayfun, Ikinciogullari, Aydan, Landais, Paul, Cant, Andrew J., Friedrich, Wilhelm, Fischer, Alain

“…Wiskott-Aldrich syndrome (WAS) is a rare X-linked immunodeficiency with microthrombocytopenia, eczema, recurrent infections, autoimmune disorders, and…”
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Early-onset autoimmune disease due to a heterozygous loss-of-function mutation in TNFAIP3 (A20) by Duncan, Christopher J A, Dinnigan, Emma, Theobald, Rachel, Grainger, Angela, Skelton, Andrew J, Hussain, Rafiqul, Willet, Joseph D P, Swan, David J, Coxhead, Jonathan, Thomas, Matthew F, Thomas, Julian, Zamvar, Veena, Slatter, Mary A, Cant, Andrew J, Engelhardt, Karin R, Hambleton, Sophie

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Bone marrow transplantation for MHC class I deficiency corrects T-cell immunity but dissociates natural killer cell repertoire formation from function by Gao, Yifang, PhD, Arkwright, Peter D., FRCPCH, DPhil, Carter, Rachel, MSc, Cazaly, Angelica, PhD, Harrison, Rebecca J., BSc, Mant, Alexandra, PhD, Cant, Andrew J., FRCP, FRCPCH, MD, Gadola, Stephan, FRCP, PhD, Elliott, Tim J., PhD, Khakoo, Salim I., FRCP, MD, Williams, Anthony P., MRCP, FRCPath, PhD

“…Initial immune investigations revealed a distinctive phenotype of a high CD4/CD8 ratio (10:1) with low numbers of CD8+ T cells (0.29 x 109/L) and normal…”
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Autoimmunity in human primary immunodeficiency diseases by Arkwright, Peter D., Abinun, Mario, Cant, Andrew J.

“…Human primary immunodeficiency diseases are experiments of nature characterized by an increased susceptibility to infection. In many cases, they are also…”
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Allogeneic hematopoietic stem cell transplantation for severe, refractory juvenile idiopathic arthritis by M. F. Silva, Juliana, Ladomenou, Fani, Carpenter, Ben, Chandra, Sharat, Sedlacek, Petr, Formankova, Renata, Grandage, Vicky, Friswell, Mark, Cant, Andrew J., Nademi, Zohreh, Slatter, Mary A., Gennery, Andrew R., Hambleton, Sophie, Flood, Terence J., Lucchini, Giovanna, Chiesa, Robert, Rao, Kanchan, Amrolia, Persis J., Brogan, Paul, Wedderburn, Lucy R., Glanville, Julie M., Hough, Rachael, Marsh, Rebecca, Abinun, Mario, Veys, Paul

“…Patients with juvenile idiopathic arthritis (JIA) can experience a severe disease course, with progressive destructive polyarthritis refractory to conventional…”
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Gut immune reconstitution in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome after hematopoietic stem cell transplantation by Gambineri, Eleonora, MD, Ciullini Mannurita, Sara, MSc, Robertson, Helen, PhD, Vignoli, Marina, PhD, Haugk, Beate, MD, Lionetti, Paolo, MD, PhD, Hambleton, Sophie, MD, PhD, Barge, Dawn, PhD, Gennery, Andrew R., MD, Slatter, Mary, MD, Nademi, Zohreh, MD, Flood, Terence J., MD, Jackson, Anthony, PhD, Abinun, Mario, MD, Cant, Andrew J., MD

“…The identified FOXP3 gene mutation was associated with a reduced protein expression in Treg cells (Figs E1 and E2 available in this article's Online Repository…”
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