Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and Type I Interferonopathy

por Duncan, Christopher James Arthur, Hambleton, Sophie
Publicado 2021

Genetic Lesions of Type I Interferon Signalling in Human Antiviral Immunity

por Duncan, Christopher J.A., Randall, Richard E., Hambleton, Sophie
Publicado 2021

Monogenic susceptibility to live viral vaccines

por Gothe, Florian, Howarth, Sophie, Duncan, Christopher JA, Hambleton, Sophie
Publicado 2021

T Cells in Preterm Infants and the Influence of Milk Diet

por Sproat, Thomas, Payne, Rebecca Pamela, Embleton, Nicholas D., Berrington, Janet, Hambleton, Sophie
Publicado 2020

Life-Threatening Influenza, Hemophagocytic Lymphohistiocytosis and Probable Vaccine-Strain Varicella in a Novel Case of Homozygous STAT2 Deficiency

por Freij, Bishara J., Hanrath, Aidan T., Chen, Rui, Hambleton, Sophie, Duncan, Christopher J. A.
Publicado 2021

Rapid Effector Function in CD8(+) Memory T Cells

por Lalvani, Ajit, Brookes, Roger, Hambleton, Sophie, Britton, Warwick J., Hill, Adrian V.S., McMichael, Andrew J.
Publicado 1997

The Impact of COVID-19 Pandemic on Adult and Pediatric Allergy & Immunology Services in the UK National Health Service

por Krishna, Mamidipudi Thirumala, Beck, Sarah, Gribbin, Nathan, Nasser, Shuaib, Turner, Paul J., Hambleton, Sophie, Sargur, Ravishankar, Whyte, Andrew, Bethune, Claire
Publicado 2021

Naïve B cells followed by aquaporin-4 antibodies characterise the onset of neuromyelitis optica: evidence from stem cell transplantation

por McNaughton, Peter, Payne, Rebecca, Michael, Sophia, Leahy, Timothy, Nicols, Alexander, Fower, Andrew, Hambleton, Sophie, Pang, Ki, Gennery, Andrew, Irani, Sarosh R
Publicado 2022

Outcome of Hematopoietic Stem Cell Transplantation in patients with Mendelian Susceptibility to Mycobacterial Diseases

por Radwan, Nesrine, Nademi, Zohreh, Lum, Su Han, Flood, Terry, Abinun, Mario, Owens, Stephen, Williams, Eleri, Gennery, Andrew R., Hambleton, Sophie, Slatter, Mary A.
Publicado 2021

Life-Threatening Primary Varicella Zoster Virus Infection With Hemophagocytic Lymphohistiocytosis-Like Disease in GATA2 Haploinsufficiency Accompanied by Expansion of Double Negati...

por Prader, Seraina, Felber, Matthias, Volkmer, Benjamin, Trück, Johannes, Schwieger-Briel, Agnes, Theiler, Martin, Weibel, Lisa, Hambleton, Sophie, Seipel, Katja, Vavassori, Stefano, Pachlopnik Schmid, Jana
Publicado 2018

14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency

por Schepp, Johanna, Chou, Janet, Skrabl-Baumgartner, Andrea, Arkwright, Peter D., Engelhardt, Karin R., Hambleton, Sophie, Morio, Tomohiro, Röther, Ekkehard, Warnatz, Klaus, Geha, Raif, Grimbacher, Bodo
Publicado 2017

Hematopoietic Cell Transplantation for Adenosine Deaminase Severe Combined Immunodeficiency—Improved Outcomes in the Modern Era

por Ghimenton, Elisabetta, Flinn, Aisling, Lum, Su Han, Leahy, Timothy R., Nademi, Zohreh, Owens, Stephen, Williams, Eleri, Flood, Terrence, Hambleton, Sophie, Slatter, Mary, Gennery, Andrew R.
Publicado 2022

Toll-like receptor-mediated, enhanced production of profibrotic TIMP-1 in monocytes from patients with systemic sclerosis: role of serum factors

por Ciechomska, Marzena, Huigens, Christiaan A, Hügle, Thomas, Stanly, Tess, Gessner, Andreas, Griffiths, Bridget, Radstake, Timothy R D J, Hambleton, Sophie, O'Reilly, Steven, van Laar, Jacob M
Publicado 2013

Type I interferon receptor (IFNAR2) deficiency reveals Zika virus cytopathicity in human macrophages and microglia

por Hanrath, Aidan T., Hatton, Catherine F., Gothe, Florian, Browne, Cathy, Vowles, Jane, Leary, Peter, Cockell, Simon J., Cowley, Sally A., James, William S., Hambleton, Sophie, Duncan, Christopher J. A.
Publicado 2022

AstuteClinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 ofICOSCauses a Combined Immunodeficiency Associated with an Enteritis and Hepatitis

por Robertson, Nic, Engelhardt, Karin R., Morgan, Neil V., Barge, Dawn, Cant, Andrew J., Hughes, Stephen M., Abinun, Mario, Xu, Yaobo, Koref, Mauro Santibanez, Arkwright, Peter D., Hambleton, Sophie
Publicado 2015

Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain

por Acres, Meghan J., Gothe, Florian, Grainger, Angela, Skelton, Andrew J., Swan, David J., Willet, Joseph D.P., Leech, Suzy, Galcheva, Sonya, Iotova, Violeta, Hambleton, Sophie, Engelhardt, Karin R.
Publicado 2019

TCRαβ-Depleted Haploidentical Grafts Are a Safe Alternative to HLA-Matched Unrelated Donor Stem Cell Transplants for Infants with Severe Combined Immunodeficiency

por Tsilifis, Christo, Lum, Su Han, Nademi, Zohreh, Hambleton, Sophie, Flood, Terence J., Williams, Eleri J., Owens, Stephen, Abinun, Mario, Cant, Andrew J., Slatter, Mary A., Gennery, Andrew R.
Publicado 2022

Low-Dose Serotherapy Improves Early Immune Reconstitution after Cord Blood Transplantation for Primary Immunodeficiencies

por Lane, Jonathan P., Evans, Philippa T.G., Nademi, Zohreh, Barge, Dawn, Jackson, Anthony, Hambleton, Sophie, Flood, Terry J., Cant, Andrew J., Abinun, Mario, Slatter, Mary A., Gennery, Andrew R.
Publicado 2014

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

por Plagnol, Vincent, Curtis, James, Epstein, Michael, Mok, Kin Y., Stebbings, Emma, Grigoriadou, Sofia, Wood, Nicholas W., Hambleton, Sophie, Burns, Siobhan O., Thrasher, Adrian J., Kumararatne, Dinakantha, Doffinger, Rainer, Nejentsev, Sergey
Publicado 2012

Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2

por Schim van der Loeff, Ina, Sprenkeler, Evelien G.G., Tool, Anton T.J., Abinun, Mario, Grainger, Angela, Engelhardt, Karin R., van Houdt, Michel, Janssen, Hans, Kuijpers, Taco W., Hambleton, Sophie
Publicado 2021