Flow Cytometry Confirmation Post Newborn Screening for SCID in England

por Gilmour, Kimberly C.
Publicado 2021

‘The long tail of Covid-19’ - The detection of a prolonged inflammatory response after a SARS-CoV-2 infection in asymptomatic and mildly affected patients

por Doykov, Ivan, Hällqvist, Jenny, Gilmour, Kimberly C., Grandjean, Louis, Mills, Kevin, Heywood, Wendy E.
Publicado 2021

Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter

por Chandra, Anita, Zhang, Fang, Gilmour, Kimberly C., Webster, David, Plagnol, Vincent, Kumararatne, Dinakantha S., Burns, Siobhan O., Nejentsev, Sergey, Thrasher, Adrian J.
Publicado 2016

Combined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review

por Roa-Bautista, Adriel, Sohail, Mahreen, Wakeling, Emma, Gilmour, Kimberly C., Davis, Mark, Gait, Anthony, Lucchini, Giovanna, Cox, David, Elfeky, Reem, Kusters, Maaike
Publicado 2023

Evaluation of a novel multiplexed assay for determining IgG levels and functional activity to SARS-CoV-2

por Johnson, Marina, Wagstaffe, Helen R., Gilmour, Kimberly C., Mai, Annabelle Lea, Lewis, Joanna, Hunt, Adam, Sirr, Jake, Bengt, Christopher, Grandjean, Louis, Goldblatt, David
Publicado 2020

Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma

por Minskaia, Ekaterina, Maimaris, Jesmeen, Jenkins, Persephone, Albuquerque, Adriana S., Hong, Ying, Eleftheriou, Despina, Gilmour, Kimberly C., Grace, Richard, Moreira, Fernando, Grimbacher, Bodo, Morris, Emma C., Burns, Siobhan O.
Publicado 2023

Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2

por Jones, Matthew L, Murden, Sherina L, Brooks, Claire, Maloney, Viv, Manning, Richard A, Gilmour, Kimberly C, Bharadwaj, Vandana, de la Fuente, Josu, Chakravorty, Subarna, Mumford, Andrew D
Publicado 2013

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

por Eletto, Davide, Burns, Siobhan O., Angulo, Ivan, Plagnol, Vincent, Gilmour, Kimberly C., Henriquez, Frances, Curtis, James, Gaspar, Miguel, Nowak, Karolin, Daza-Cajigal, Vanessa, Kumararatne, Dinakantha, Doffinger, Rainer, Thrasher, Adrian J., Nejentsev, Sergey
Publicado 2016

Engineered bacteriophages for treatment of a patient with a disseminated drug resistant Mycobacterium abscessus

por Dedrick, Rebekah M., Guerrero-Bustamante, Carlos A., Garlena, Rebecca A., Russell, Daniel A., Ford, Katrina, Harris, Kathryn, Gilmour, Kimberly C., Soothill, James, Jacobs-Sera, Deborah, Schooley, Robert T., Hatfull, Graham F., Spencer, Helen
Publicado 2019

Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease

por Dirvanskyte, Paulina, Gurram, Bhaskar, Bolton, Chrissy, Warner, Neil, Jones, Kelsey D J, Griffin, Helen R, Park, Jason Y, Keller, Klaus-Michael, Gilmour, Kimberly C, Hambleton, Sophie, Muise, Aleixo M, Wysocki, Christian, Uhlig, Holm H
Publicado 2022

Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission

por Shahni, Rojeen, Cale, Catherine M., Anderson, Glenn, Osellame, Laura D., Hambleton, Sophie, Jacques, Thomas S., Wedatilake, Yehani, Taanman, Jan-Willem, Chan, Emma, Qasim, Waseem, Plagnol, Vincent, Chalasani, Annapurna, Duchen, Michael R., Gilmour, Kimberly C., Rahman, Shamima
Publicado 2015

Point-of-care serological assays for delayed SARS-CoV-2 case identification among health-care workers in the UK: a prospective multicentre cohort study

por Pallett, Scott J C, Rayment, Michael, Patel, Aatish, Fitzgerald-Smith, Sophia A M, Denny, Sarah J, Charani, Esmita, Mai, Annabelle L, Gilmour, Kimberly C, Hatcher, James, Scott, Christopher, Randell, Paul, Mughal, Nabeela, Jones, Rachael, Moore, Luke S P, Davies, Gary W
Publicado 2020

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ()

por Burns, Siobhan O., Plagnol, Vincent, Gutierrez, Beatriz Morillo, Al Zahrani, Daifulah, Curtis, James, Gaspar, Miguel, Hassan, Amel, Jones, Alison M., Malone, Marian, Rampling, Dyanne, McLatchie, Alex, Doffinger, Rainer, Gilmour, Kimberly C., Henriquez, Frances, Thrasher, Adrian J., Gaspar, H. Bobby, Nejentsev, Sergey
Publicado 2014

Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1

por Standing, Ariane S.I., Malinova, Dessislava, Hong, Ying, Record, Julien, Moulding, Dale, Blundell, Michael P., Nowak, Karolin, Jones, Hannah, Omoyinmi, Ebun, Gilmour, Kimberly C., Medlar, Alan, Stanescu, Horia, Kleta, Robert, Anderson, Glenn, Nanthapisal, Sira, Gomes, Sonia Melo, Klein, Nigel, Eleftheriou, Despina, Thrasher, Adrian J., Brogan, Paul A.
Publicado 2017

Quantitative, multiplexed, targeted proteomics for ascertaining variant specific SARS-CoV-2 antibody response

por Doykov, Ivan, Baldwin, Tomas, Spiewak, Justyna, Gilmour, Kimberly C., Gibbons, Joseph M., Pade, Corinna, Reynolds, Catherine J., Áine McKnight, Noursadeghi, Mahdad, Maini, Mala K., Manisty, Charlotte, Treibel, Thomas, Captur, Gabriella, Fontana, Marianna, Boyton, Rosemary J., Altmann, Daniel M., Brooks, Tim, Semper, Amanda, Moon, James C., Kevin Mills, Heywood, Wendy E.
Publicado 2022

Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4

por Cooray, Samantha, Price-Kuehne, Fiona, Hong, Ying, Omoyinmi, Ebun, Burleigh, Alice, Gilmour, Kimberly C., Ahmad, Bilal, Choi, Sangdun, Bahar, Mohammad W., Torpiano, Paul, Gagunashvili, Andrey, Jensen, Barbara, Bellos, Evangelos, Sancho-Shimizu, Vanessa, Herberg, Jethro A., Mankad, Kshitij, Kumar, Atul, Kaliakatsos, Marios, Worth, Austen J. J., Eleftheriou, Despina, Whittaker, Elizabeth, Brogan, Paul A.
Publicado 2023

Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity

por Haimel, Matthias, Pazmandi, Julia, Heredia, Raú Jiménez, Dmytrus, Jasmin, Bal, Sevgi Köstel, Zoghi, Samaneh, van Daele, Paul, Briggs, Tracy A., Wouters, Carine, Bader-Meunier, Brigitte, Aeschlimann, Florence A., Caorsi, Roberta, Eleftheriou, Despina, Hoppenreijs, Esther, Salzer, Elisabeth, Bakhtiar, Shahrzad, Derfalvi, Beata, Saettini, Francesco, Kusters, Maaike A. A., Elfeky, Reem, Trück, Johannes, Rivière, Jacques G., van der Burg, Mirjam, Gattorno, Marco, Seidel, Markus G., Burns, Siobhan, Warnatz, Klaus, Hauck, Fabian, Brogan, Paul, Gilmour, Kimberly C., Schuetz, Catharina, Simon, Anna, Bock, Christoph, Hambleton, Sophie, de Vries, Esther, Robinson, Peter N., van Gijn, Marielle, Boztug, Kaan
Publicado 2022

Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

por Serra, Eva Gonçalves, Schwerd, Tobias, Moutsianas, Loukas, Cavounidis, Athena, Fachal, Laura, Pandey, Sumeet, Kammermeier, Jochen, Croft, Nicholas M., Posovszky, Carsten, Rodrigues, Astor, Russell, Richard K., Barakat, Farah, Auth, Marcus K. H., Heuschkel, Robert, Zilbauer, Matthias, Fyderek, Krzysztof, Braegger, Christian, Travis, Simon P., Satsangi, Jack, Parkes, Miles, Thapar, Nikhil, Ferry, Helen, Matte, Julie C., Gilmour, Kimberly C., Wedrychowicz, Andrzej, Sullivan, Peter, Moore, Carmel, Sambrook, Jennifer, Ouwehand, Willem, Roberts, David, Danesh, John, Baeumler, Toni A., Fulga, Tudor A., Carrami, Eli M., Ahmed, Ahmed, Wilson, Rachel, Barrett, Jeffrey C., Elkadri, Abdul, Griffiths, Anne M., Snapper, Scott B., Shah, Neil, Muise, Aleixo M., Wilson, David C., Uhlig, Holm H., Anderson, Carl A.
Publicado 2020

Author Correction: Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

por Serra, Eva Gonçalves, Schwerd, Tobias, Moutsianas, Loukas, Cavounidis, Athena, Fachal, Laura, Pandey, Sumeet, Kammermeier, Jochen, Croft, Nicholas M., Posovszky, Carsten, Rodrigues, Astor, Russell, Richard K., Barakat, Farah, Auth, Marcus K. H., Heuschkel, Robert, Zilbauer, Matthias, Fyderek, Krzysztof, Braegger, Christian, Travis, Simon P., Satsangi, Jack, Parkes, Miles, Thapar, Nikhil, Ferry, Helen, Matte, Julie C., Gilmour, Kimberly C., Wedrychowicz, Andrzej, Sullivan, Peter, Moore, Carmel, Sambrook, Jennifer, Ouwehand, Willem, Roberts, David, Danesh, John, Baeumler, Toni A., Fulga, Tudor A., Carrami, Eli M, Ahmed, Ahmed, Wilson, Rachel, Barrett, Jeffrey C., Elkadri, Abdul, Griffiths, Anne M., Snapper, Scott B., Shah, Neil, Muise, Aleixo M., Wilson, David C., Uhlig, Holm H., Anderson, Carl A.
Publicado 2022

Whole genome sequencing of a sporadic primary immunodeficiency cohort

por Thaventhiran, James E. D., Allen, Hana Lango, Burren, Oliver S., Rae, William, Greene, Daniel, Staples, Emily, Zhang, Zinan, Farmery, James H. R., Simeoni, Ilenia, Rivers, Elizabeth, Maimaris, Jesmeen, Penkett, Christopher J, Stephens, Jonathan, Deevi, Sri V.V., Sanchis-Juan, Alba, Gleadall, Nicholas S, Thomas, Moira J., Sargur, Ravishankar B., Gordins, Pavels, Baxendale, Helen E., Brown, Matthew, Tuijnenburg, Paul, Worth, Austen, Hanson, Steven, Linger, Rachel, Buckland, Matthew S., Rayner-Matthews, Paula J., Gilmour, Kimberly C., Samarghitean, Crina, Seneviratne, Suranjith L., Sansom, David M., Lynch, Andy G., Megy, Karyn, Ellinghaus, Eva, Ellinghaus, David, Jorgensen, Silje F., Karlsen, Tom H, Stirrups, Kathleen E., Cutler, Antony J., Kumararatne, Dinakantha S., Chandra, Anita, Edgar, J. David M., Herwadkar, Archana, Cooper, Nichola, Grigoriadou, Sofia, Huissoon, Aarnoud, Goddard, Sarah, Jolles, Stephen, Schuetz, Catharina, Boschann, Felix, Lyons, Paul A., Hurles, Matthew E., Savic, Sinisa, Burns, Siobhan O., Kuijpers, Taco W., Turro, Ernest, Ouwehand, Willem H., Thrasher, Adrian J., Smith, Kenneth G. C.
Publicado 2020