Browse by UCL people
Group by: Type | Date
Number of items: 88.
Article
Abolhassani, H;
El-Sherbiny, YM;
Arumugakani, G;
Carter, C;
Richards, S;
Lawless, D;
Wood, P;
... Savic, S; + view all
(2019)
Expanding Clinical Phenotype and Novel Insights into the Pathogenesis of ICOS Deficiency.
Journal of Clinical Immunology
10.1007/s10875-019-00735-z.
(In press).
|
Albert, Michael H;
Sirait, Tiarlan;
Eikema, Dirk-Jan;
Bakunina, Katerina;
Wehr, Claudia;
Suarez, Felipe;
Fox, María Laura;
... Morris, Emma C; + view all
(2022)
Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity, an EBMT IEWP study.
Blood
, 140
(14)
pp. 1635-1649.
10.1182/blood.2022015506.
|
Arno, G;
Carss, KJ;
Hull, S;
Zihni, C;
Robson, AG;
Fiorentino, A;
Hardcastle, AJ;
... Yu, P; + view all
(2017)
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
The American Journal of Human Genetics
, 100
(2)
pp. 334-342.
10.1016/j.ajhg.2016.12.014.
|
Bahal, S;
Verma, N;
Tadros, S;
Lowe, DM;
Burns, SO;
(2020)
A Case of Burkholderia Prostatitis in a Patient with Chronic Granulomatous Disease.
Journal of Clinical Immunology
, 40
pp. 1204-1206.
10.1007/s10875-020-00833-3.
|
Baptista, MA;
Keszei, M;
Oliveira, M;
Sunahara, KK;
Andersson, J;
Dahlberg, CI;
Worth, AJ;
... Westerberg, LS; + view all
(2016)
Deletion of Wiskott-Aldrich syndrome protein triggers Rac2 activity and increased cross-presentation by dendritic cells.
Nature Communications
, 7
, Article 12175. 10.1038/ncomms12175.
|
Battersby, AC;
Braggins, H;
Pearce, MS;
Cale, CM;
Burns, SO;
Hackett, S;
Hughes, S;
... Gennery, AR; + view all
(2017)
Inflammatory and autoimmune manifestations in X-linked carriers of chronic granulomatous disease in the United Kingdom.
Journal of Allergy and Clinical Immunology
, 140
(2)
628-630.e6.
10.1016/j.jaci.2017.02.029.
|
Battersby, AC;
Braggins, H;
Pearce, MS;
McKendrick, F;
Campbell, M;
Burns, S;
Cale, CM;
... Gennery, AR; + view all
(2019)
Health-Related Quality of Life and Emotional Health in X-Linked Carriers of Chronic Granulomatous Disease in the United Kingdom.
Journal of Clinical Immunology
10.1007/s10875-019-00607-6.
(In press).
|
Beilin, C;
Choudhuri, K;
Bouma, G;
Malinova, D;
Llodra, J;
Stokes, D;
Shimaoka, M;
... Burns, S; + view all
(2018)
Dendritic cell-expressed common gamma-chain recruits IL-15 for trans-presentation at the murine immunological synapse [version 1].
Wellcome Open Research
10.12688/wellcomeopenres.14493.1.
|
Beilin, C;
Choudhuri, K;
Bouma, G;
Malinova, D;
Llodra, J;
Stokes, DL;
Shimaoka, M;
... Burns, SO; + view all
(2018)
Dendritic cell-expressed common gamma-chain recruits IL-15 for trans-presentation at the murine immunological synapse [version 2; referees: 2 approved].
Wellcome Open Research
, 3
, Article 84. 10.12688/wellcomeopenres.14493.2.
|
Blombery, Piers;
Pazhakh, Vahid;
Albuquerque, Adriana S;
Maimaris, Jesmeen;
Tu, Lingge;
Briones Miranda, Brenda;
Evans, Florence;
... Lieschke, Graham J; + view all
(2023)
Biallelic deleterious germline SH2B3 variants cause a novel syndrome of myeloproliferation and multi-organ autoimmunity.
EJHaem
, 4
(2)
pp. 463-469.
10.1002/jha2.698.
|
Bouma, G;
Carter, NA;
Recher, M;
Malinova, D;
Adriani, M;
Notarangelo, LD;
Burns, SO;
... Thrasher, AJ; + view all
(2014)
Exacerbated experimental arthritis in Wiskott-Aldrich syndrome protein deficiency: modulatory role of regulatory B cells.
Eur J Immunol
, 44
(9)
2692 - 2702.
10.1002/eji.201344245.
|
Brown, L-AK;
Ruis, C;
Clark, I;
Roy, S;
Brown, JR;
Albuquerque, AS;
Patel, SY;
... Lowe, DM; + view all
(2019)
A comprehensive characterization of chronic norovirus infection in immunodeficient hosts.
Journal of Allergy and Clinical Immunology
, 144
(5)
pp. 1450-1453.
10.1016/j.jaci.2019.07.036.
|
Burns, S;
Morris, EC;
(2021)
How I use allogeneic HSCT for adults with inborn errors of immunity.
Blood
, 138
(18)
pp. 1666-1676.
10.1182/blood.2020008187.
|
Burns, SO;
Zarafov, A;
Thrasher, AJ;
(2017)
Primary immunodeficiencies due to abnormalities of the actin cytoskeleton.
Current Opinion in Hematology
, 24
(1)
pp. 16-22.
10.1097/MOH.0000000000000296.
|
Campos, LC;
Di Colo, G;
Dattani, V;
Braggins, H;
Kumararatne, D;
Williams, AP;
Alachkar, H;
... Burns, SO; + view all
(2021)
Long-term outcomes for adults with chronic granulomatous disease in the United Kingdom.
Journal of Allergy and Clinical Immunology
, 147
(3)
pp. 1104-1107.
10.1016/j.jaci.2020.08.034.
|
Carss, KJ;
Arno, G;
Erwood, M;
Stephens, J;
Sanchis-Juan, A;
Hull, S;
Megy, K;
... Raymond, FL; + view all
(2017)
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
American Journal of Human Genetics
, 100
(1)
pp. 75-90.
10.1016/j.ajhg.2016.12.003.
|
Chandra, A;
Zhang, F;
Gilmour, KC;
Webster, D;
Plagnol, V;
Kumararatne, DS;
Burns, SO;
... Thrasher, AJ; + view all
(2016)
Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter.
Journal of Allergy and Clinical Immunology
, 137
(3)
940-942.e4.
10.1016/j.jaci.2015.08.049.
|
Coulter, TI;
Chandra, A;
Bacon, CM;
Babar, J;
Curtis, J;
Screaton, N;
Goodlad, JR;
... Cant, AJ; + view all
(2016)
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.
J Allergy Clin Immunol
10.1016/j.jaci.2016.06.021.
|
Daza-Cajigal, V;
Albuquerque, AS;
Pearson, J;
Hinley, J;
Mason, AS;
Stahlschmidt, J;
Thrasher, AJ;
... Burns, SO; + view all
(2019)
Loss of Janus Associated Kinase 1 Alters Urothelial Cell Function and Facilitates the Development of Bladder Cancer.
Frontiers in Immunology
, 10
, Article 2065. 10.3389/fimmu.2019.02065.
|
Dobbs, K;
Tabellini, G;
Calzoni, E;
Patrizi, O;
Martinez, P;
Giliani, SC;
Moratto, D;
... Notarangelo, LD; + view all
(2017)
Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56(bright) NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.
Frontiers In Immunology
, 8
, Article 798. 10.3389/fimmu.2017.00798.
|
Dobbs, K;
Tabellini, G;
Calzoni, E;
Patrizi, O;
Martinez, P;
Giliani, SC;
Moratto, D;
... Notarangelo, LD; + view all
(2017)
Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56(bright) NKG2A(+++) Cells, and Yet Display Increased Degranulation and Higher Perforin Content.
[Corrigendum].
Frontiers In Immunology
, 8
, Article 1244. 10.3389/fimmu.2017.01244.
|
Eletto, D;
Burns, SO;
Angulo, I;
Plagnol, V;
Gilmour, KC;
Henriquez, F;
Curtis, J;
... Nejentsev, S; + view all
(2016)
Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection.
Nature Communications
, 7
, Article 13992. 10.1038/ncomms13992.
|
Farmery, JHR;
Smith, ML;
Lynch, AG;
Huissoon, A;
Furnell, A;
Mead, A;
Levine, AP;
... Tan, Y; + view all
(2018)
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (vol 8, 1300, 2018).
Scientific Reports
, 8
, Article 13376. 10.1038/s41598-018-31524-0.
|
Farmery, JHR;
Smith, ML;
NIHR BioResource - Rare Diseases, .;
Lynch, AG;
Mead, A;
Levine, AP;
Manzur, A;
... Huissoon, A; + view all
(2018)
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.
Scientific Reports
, 8
, Article 1300. 10.1038/s41598-017-14403-y.
|
Fliegauf, Manfred;
Kinnunen, Matias;
Posadas-Cantera, Sara;
Camacho-Ordonez, Nadezhda;
Abolhassani, Hassan;
Alsina, Laia;
Atschekzei, Faranaz;
... Grimbacher, Bodo; + view all
(2022)
Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50.
Frontiers in Immunology
, 13
, Article 965326. 10.3389/fimmu.2022.965326.
|
Fox, TA;
Kirkwood, AA;
Enfield, L;
O'Reilly, M;
Arulogun, S;
D'Sa, S;
O'Nions, J;
... Morris, EC; + view all
(2021)
Low seropositivity and suboptimal neutralisation rates in patients fully vaccinated against COVID-19 with B-cell malignancies.
British Journal of Haematology
, 195
(5)
pp. 706-709.
10.1111/bjh.17836.
|
Fox, Thomas Andrew;
Houghton, Benjamin Christopher;
Petersone, Lina;
Waters, Erin;
Edner, Natalie Mona;
McKenna, Alex;
Preham, Olivier;
... Morris, Emma Catherine; + view all
(2022)
Therapeutic gene editing of T cells to correct CTLA-4 insufficiency.
Science Translational Medicine
, 14
(668)
, Article eabn5811. 10.1126/scitranslmed.abn5811.
|
Fox, T;
Chakraverty, R;
Burns, S;
Carpenter, B;
Thomson, K;
Lowe, D;
Fielding, A;
... Morris, EC; + view all
(2018)
Successful outcome following allogeneic hematopoietic stem cell transplantation in adults with primary immunodeficiency.
Blood
, 131
(8)
pp. 917-931.
10.1182/blood-2017-09-807487.
|
Ghosh, S;
Köstel Bal, S;
Edwards, ESJ;
Pillay, B;
Jimenez-Heredia, R;
Rao, G;
Erol Cipe, F;
... Boztug, K; + view all
(2020)
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.
Blood
, 136
(23)
pp. 2638-2655.
10.1182/blood.2020006738.
|
Gorman, KM;
Meyer, E;
Grozeva, D;
Spinelli, E;
McTague, A;
Sanchis-Juan, A;
Carss, KJ;
... Kurian, MA; + view all
(2019)
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
American Journal of Human Genetics
, 104
(5)
pp. 948-956.
10.1016/j.ajhg.2019.03.005.
|
Haimel, M;
Pazmandi, J;
Jiménez Heredia, R;
Dmytrus, J;
Bal, SK;
Zoghi, S;
Van Daele, P;
... Boztug, K; + view all
(2022)
Curation and Expansion of Human Phenotype Ontology for Defined Groups of Inborn Errors of Immunity.
Journal of Allergy and Clinical Immunology
, 149
(1)
pp. 369-378.
10.1016/j.jaci.2021.04.033.
|
Halliday, Neil;
Eden, Nadia;
Somers, Henry;
Burke, Niall;
Silva, Hiroshi;
Brito, Camila Gx;
Hall, Andrew;
... Thorburn, Douglas; + view all
(2024)
Common variable immunodeficiency disorder-related liver disease is common and results in portal hypertension and an increased risk of death.
Hepatology Communications
, 8
(1)
, Article e0322. 10.1097/HC9.0000000000000322.
|
Hou, TZ;
Olbrich, P;
Soto, JML;
Sanchez, B;
Moreno, PS;
Borte, S;
Stauss, HJ;
... Neth, O; + view all
(2018)
Study of an extended family with CTLA-4 deficiency suggests a CD28/CTLA-4 independent mechanism responsible for differences in disease manifestations and severity.
Clinical Immunology
, 188
pp. 94-102.
10.1016/j.clim.2018.01.001.
|
Hou, TZ;
Verma, N;
Wanders, J;
Kennedy, A;
Soskic, B;
Janman, D;
Halliday, N;
... Sansom, DM; + view all
(2017)
Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations.
Blood
, 129
pp. 1458-1468.
10.1182/blood-2016-10-745174.
|
Hurst, JR;
Verma, N;
Lowe, D;
Baxendale, HE;
Jolles, S;
Kelleher, P;
Longhurst, HJ;
... Condliffe, AM; + view all
(2017)
British Lung Foundation/United Kingdom Primary Immunodeficiency Network Consensus Statement on the Definition, Diagnosis, and Management of Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders.
The Journal of Allergy and Clinical Immunology: In Practice
, 5
(4)
pp. 938-945.
10.1016/j.jaip.2017.01.021.
|
Hurst, JR;
Warnatz, K;
ERS eGLILDnet Clinical Research Collaboration;
(2020)
Interstitial lung disease in primary immunodeficiency: towards a brighter future.
European Respiratory Journal
, 55
(4)
, Article 2000089. 10.1183/13993003.00089-2020.
|
Israni, Muskan;
Alderson, Eliska;
Mahlaoui, Nizar;
Obici, Laura;
Rossi-Semerano, Linda;
Lachmann, Helen;
Avramovic, Mojca Zajc;
... ERN RITA Transition Working Grp Consortium, Anna; + view all
(2025)
Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care.
Journal of Clinical Immunology
, 45
(1)
, Article 57. 10.1007/s10875-024-01838-y.
|
Israni, Muskan;
Nicholson, Bethany;
Mahlaoui, Nizar;
Obici, Laura;
Rossi-Semerano, Linda;
Lachmann, Helen;
Hayward, Georgia;
... RITA-ERN, Transition Working Group Consortium; + view all
(2022)
Current Transition Practice for Primary Immunodeficiencies and Autoinflammatory Diseases in Europe: a RITA-ERN Survey.
Journal of Clinical Immunology
10.1007/s10875-022-01345-y.
(In press).
|
Khan, KN;
El-Asrag, ME;
Ku, CA;
Holder, GE;
McKibbin, M;
Arno, G;
Poulter, JA;
... for NIHR BioResource-Rare Diseases and UK Inherited Retinal Dise, .; + view all
(2017)
Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy.
Investigative Ophthalmology & Visual Science
, 58
(7)
pp. 2906-2914.
10.1167/iovs.16-20608.
|
Klemann, C;
Camacho-Ordonez, N;
Yang, L;
Eskandarian, Z;
Rojas-Restrepo, JL;
Frede, N;
Bulashevska, A;
... Grimbacher, B; + view all
(2019)
Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2.
Frontiers in Immunology
, 10
, Article 297. 10.3389/fimmu.2019.00297.
|
Lawless, D;
Geier, CB;
Farmer, JR;
Lango, HA;
Thwaites, D;
Atschekzei, F;
Brown, M;
... Savic, S; + view all
(2018)
Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency.
Journal of Allergy and Clinical Immunology
, 141
(6)
pp. 2303-2306.
10.1016/j.jaci.2018.02.007.
|
Lee, PP;
Lobato-Márquez, D;
Pramanik, N;
Sirianni, A;
Daza-Cajigal, V;
Rivers, E;
Cavazza, A;
... Thrasher, AJ; + view all
(2017)
Wiskott-Aldrich syndrome protein regulates autophagy and inflammasome activity in innate immune cells.
Nature Communications
, 8
, Article 1576. 10.1038/s41467-017-01676-0.
|
Leiper, A;
Houwing, M;
Davies, EG;
Rao, K;
Burns, S;
Morris, E;
Laven, J;
... Nussey, S; + view all
(2020)
Anti-Mullerian hormone and Inhibin B after stem cell transplant in childhood: a comparison of myeloablative, reduced intensity and treosulfan-based chemotherapy regimens.
Bone Marrow Transplantation
10.1038/s41409-020-0866-9.
|
Leon-Rico, D;
Aldea, M;
Sanchez-Baltasar, R;
Mesa-Nuñez, C;
Record, J;
Burns, SO;
Santilli, G;
... Almarza, E; + view all
(2016)
Lentiviral Vector-Mediated Correction of a Mouse Model of Leukocyte Adhesion Deficiency Type I.
Human Gene Therapy
, 27
(9)
pp. 668-678.
10.1089/hum.2016.016.
|
Lorenzini, T;
Fliegauf, M;
Klammer, N;
Frede, N;
Proietti, M;
Bulashevska, A;
Camacho-Ordonez, N;
... Grimbacher, B; + view all
(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
, 146
(4)
pp. 901-911.
10.1016/j.jaci.2019.11.051.
|
Maccari, ME;
Abolhassani, H;
Aghamohammadi, A;
Aiuti, A;
Aleinikova, O;
Bangs, C;
Baris, S;
... Ehl, S; + view all
(2018)
Disease evolution and response to rapamycin in Activated Phosphoinositide 3-Kinase delta syndrome: the european society for immunodeficiencies-Activated Phosphoinositide 3-Kinase d syndrome registry.
Frontiers in Immunology
, 9
, Article 543. 10.3389/fimmu.2018.00543.
|
Maimaris, Jesmeen;
O'Sullivan, Anjel;
Underhill, Isabella;
Green, Ghiselle;
Symes, Andrew;
Lowe, David;
Burns, Siobhan;
... Elfeky, Reem; + view all
(2023)
Immunoglobulin Replacement Therapy During COVID-19 Pandemic: Practical and Psychological Impact in Patients with Antibody Deficiency.
Journal of Clinical Immunology
10.1007/s10875-023-01538-z.
(In press).
|
Molnár, E;
Radwan, N;
Kovács, G;
Andrikovics, H;
Henriquez, F;
Zarafov, A;
Hayman, M;
... Gilmour, K; + view all
(2020)
Key diagnostic markers for Autoimmune Lymphoproliferative Syndrome with molecular genetic diagnosis.
Blood
, 136
(17)
pp. 1933-1945.
10.1182/blood.2020005486.
|
Moran, I;
Avery, DT;
Payne, K;
Lenthall, H;
Davies, EG;
Burns, S;
Ip, W;
... Phan, TG; + view all
(2019)
B cell–intrinsic requirement for STK4 in humoral immunity in mice and human subjects.
Journal of Allergy and Clinical Immunology
, 143
(6)
pp. 2302-2305.
10.1016/j.jaci.2019.02.010.
|
Morris, EC;
Fox, T;
Chakraverty, R;
Tendeiro, R;
Snell, K;
Rivat, C;
Grace, S;
... Thrasher, AJ; + view all
(2017)
Gene therapy for Wiskott-Aldrich syndrome in a severely affected adult.
Blood
, 130
pp. 1327-1335.
10.1182/blood-2017-04-777136.
|
Nowak, K;
Linzner, D;
Thrasher, AJ;
Lambert, PF;
Di, WL;
Burns, SO;
(2017)
Absence of γ-chain in keratinocytes alters chemokine secretion resulting in reduced immune cell recruitment.
Journal of Investigative Dermatology
, 137
(10)
pp. 2120-2130.
10.1016/j.jid.2017.05.024.
|
Orf, K;
Abbas, A;
Abdel-Aziz, K;
Burns, SO;
(2020)
Transverse myelitis in a patient with activated phosphoinositide 3-kinase δ syndrome type 1.
Clinical Immunology
, 219
, Article 108552. 10.1016/j.clim.2020.108552.
|
Papapietro, O;
Chandra, A;
Eletto, D;
Inglott, S;
Plagnol, V;
Curtis, J;
Maes, M;
... Nejentsev, S; + view all
(2020)
Topoisomerase 2β mutation impairs early B-cell development.
Blood
, 135
(17)
pp. 1497-1501.
10.1182/blood.2019003299.
|
Plagnol, V;
Curtis, J;
Epstein, M;
Mok, KY;
Stebbings, E;
Grigoriadou, S;
Wood, NW;
... Nejentsev, S; + view all
(2012)
A robust model for read count data in exome sequencing experiments and implications for copy number variant calling.
Bioinformatics
, 28
(21)
2747 - 2754.
10.1093/bioinformatics/bts526.
|
Ramsay, I;
Gorton, RL;
Patel, M;
Workman, S;
Symes, A;
Haque, T;
Irish, D;
... Lowe, DM; + view all
(2016)
Transmission of Hepatitis B Core Antibody and Galactomannan Enzyme Immunoassay Positivity via Immunoglobulin Products: A Comprehensive Analysis.
Clinical Infectious Diseases
, 63
(1)
pp. 57-63.
10.1093/cid/ciw222.
|
Record, J;
Sendel, A;
Kritikou, JS;
Kuznetsov, NV;
Brauner, H;
He, M;
Nagy, N;
... Westerberg, LS; + view all
(2019)
An intronic deletion in megakaryoblastic leukemia 1 is associated with hyperproliferation of B cells in triplets with Hodgkin lymphoma.
Haematologica
10.3324/haematol.2019.216317.
(In press).
|
Rhodes, CJ;
Batai, K;
Bleda, M;
Haimel, M;
Southgate, L;
Germain, M;
Pauciulo, MW;
... Winslow, C; + view all
(2019)
Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.
The Lancet Respiratory Medicine
, 7
(3)
pp. 227-238.
10.1016/S2213-2600(18)30409-0.
|
Rivers, E;
Worth, A;
Thrasher, AJ;
Burns, SO;
(2019)
How I manage patients with Wiskott Aldrich syndrome.
British Journal of Haematology
, 185
(4)
pp. 647-655.
10.1111/bjh.15831.
|
Rivers, E;
Worth, A;
Thrasher, AJ;
Burns, SO;
(2018)
Bleeding and splenectomy in Wiskott-Aldrich syndrome: A single-centre experience.
[Letter].
The Journal of Allergy and Clinical Immunology: In Practice
10.1016/j.jaip.2018.07.009.
(In press).
|
Roa-Bautista, Adriel;
Brown, Li-An K;
Tadros, Susan;
Burns, Siobhan O;
Godbole, Gauri;
Lowe, David M;
(2023)
Clinical Features, Immunological Characteristics, and Treatment Outcomes of Campylobacter spp. Infections in Patients With Common Variable Immunodeficiency.
The Journal of Allergy and Clinical Immunology: In Practice
10.1016/j.jaip.2023.06.050.
(In press).
|
Ruis, C;
Brown, L-AK;
Roy, S;
Atkinson, C;
Williams, R;
Burns, SO;
Yara-Romero, E;
... Lowe, DM; + view all
(2018)
Mutagenesis in Norovirus in Response to Favipiravir Treatment.
New England Journal of Medicine
, 379
(22)
pp. 2173-2176.
10.1056/NEJMc1806941.
|
Schejtman, A;
Aragão-Filho, WC;
Clare, S;
Zinicola, M;
Weisser, M;
Burns, SO;
Booth, C;
... Santilli, G; + view all
(2020)
Lentiviral gene therapy rescues p47phox chronic granulomatous disease and the ability to fight Salmonella infection in mice.
Gene Therapy
10.1038/s41434-020-0164-6.
(In press).
|
Scheuerlein, P;
Pietsch, L;
Camacho-Ordonez, N;
Reiser, V;
Patel, S;
Burns, SO;
Warnatz, K;
(2018)
Is It Safe to Switch From Intravenous Immunoglobulin to Subcutaneous Immunoglobulin in Patients With Common Variable Immunodeficiency and Autoimmune Thrombocytopenia?
Frontiers in Immunology
, 9
, Article 1656. 10.3389/fimmu.2018.01656.
|
Schnell, A;
Davrandi, M;
Saxenhofer, M;
Leboreiro, C;
Graeter, S;
Moreira, F;
Hauswald, M;
... Lowe, DM; + view all
(2022)
Airway inflammation and dysbiosis in antibody deficiency despite the presence of IgG.
The Journal of Allergy and Clinical Immunology
, 149
(6)
2105-2115.e10.
10.1016/j.jaci.2021.12.778.
|
Šedivá, A;
Milota, T;
Litzman, J;
Quinti, I;
Meyts, I;
Burns, S;
Jolles, S;
(2021)
Medical algorithm: Diagnosis and management of antibody immunodeficiencies.
Allergy: European Journal of Allergy and Clinical Immunology
, 76
(12)
pp. 3841-3844.
10.1111/all.14961.
|
Shields, Adrian M;
Anantharachagan, Ariharan;
Arumugakani, Gururaj;
Baker, Kenneth;
Bahal, Sameer;
Baxendale, Helen;
Bermingham, William;
... Richter, Alex G; + view all
(2022)
Outcomes following SARS-CoV-2 infection in patients with primary and secondary immunodeficiency in the UK.
Clinical and Experimental Immunology
10.1093/cei/uxac008.
(In press).
|
Shields, Adrian M;
Faustini, Sian E;
Hill, Harriet J;
Al-Taei, Saly;
Tanner, Chloe;
Ashford, Fiona;
Workman, Sarita;
... COV-AD consortium; + view all
(2022)
SARS-CoV-2 Vaccine Responses in Individuals with Antibody Deficiency: Findings from the COV-AD Study.
Journal of Clinical Immunology
10.1007/s10875-022-01231-7.
|
Shields, AM;
Burns, SO;
Savic, S;
Richter, AG;
UK PIN COVID-19 Consortium, .;
(2021)
COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience.
Journal of Allergy and Clinical Immunology
, 147
(3)
870-875.e1.
10.1016/j.jaci.2020.12.620.
|
Sperlich, JM;
Grimbacher, B;
Workman, S;
Haque, T;
Seneviratne, SL;
Burns, SO;
Reiser, V;
... Lowe, DM; + view all
(2018)
Respiratory Infections and Antibiotic Usage in Common Variable Immunodeficiency.
Journal of Allergy and Clinical Immunology: In Practice
, 6
(1)
159-168.e3.
10.1016/j.jaip.2017.05.024.
|
Sprenkeler, EGG;
Tool, ATJ;
Kreft, IC;
van Alphen, FPJ;
NBR-RD PID Consortium, NIHR BioResource;
Seneviratne, SL;
Maimaris, J;
... Kuijpers, TW; + view all
(2020)
Loss‐of‐function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees.
British Journal of Haematology
, 191
(5)
pp. 930-934.
10.1111/bjh.17081.
|
Steele, CL;
Dore, M;
Ammann, S;
Loughrey, M;
Montero, A;
Burns, SO;
Morris, EC;
... Edgar, DM; + view all
(2016)
X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis.
Journal of Clinical Immunology
, 36
(7)
pp. 733-738.
10.1007/s10875-016-0320-3.
|
Stubbs, A;
Bangs, C;
Shillitoe, B;
Edgar, JD;
Burns, SO;
Thomas, M;
Alachkar, H;
... Arkwright, PD; + view all
(2018)
Bronchiectasis and deteriorating lung function in agammaglobulinaemia despite immunoglobulin replacement therapy.
Clinical and Experimental Immunology
, 191
(2)
pp. 212-219.
10.1111/cei.13068.
|
Thaventhiran, JED;
Lango Allen, H;
Burren, OS;
Rae, W;
Greene, D;
Staples, E;
Zhang, Z;
... Smith, KGC; + view all
(2020)
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature
, 583
pp. 90-95.
10.1038/s41586-020-2265-1.
|
Tuijnenburg, P;
Lango Allen, H;
Burns, SO;
Greene, D;
Jansen, MH;
Staples, E;
Stephens, J;
... NIHR-BioResource – Rare Diseases Consortium, .; + view all
(2018)
Loss of function NFKB1 variants are the most common monogenic cause of CVID in Europeans.
Journal of Allergy and Clinical Immunology
, 142
(4)
pp. 1285-1296.
10.1016/j.jaci.2018.01.039.
|
Turro, E;
Astle, WJ;
Megy, K;
Gräf, S;
Greene, D;
Shamardina, O;
Allen, HL;
... Ouwehand, WH; + view all
(2020)
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature
, 583
pp. 96-102.
10.1038/s41586-020-2434-2.
|
Upasani, Vinit;
Townsend, Katie;
Wu, Mary Y;
Carr, Edward J;
Hobbs, Agnieszka;
Dowgier, Giulia;
Ragno, Martina;
... Lowe, David M; + view all
(2023)
Commercial Immunoglobulin Products Contain Neutralizing Antibodies Against Severe Acute Respiratory Syndrome Coronavirus 2 Spike Protein.
Clinical Infectious Diseases
, Article ciad368. 10.1093/cid/ciad368.
(In press).
|
van de Geer, A;
Nieto-Patlán, A;
Kuhns, DB;
Tool, ATJ;
Arias, AA;
Bouaziz, M;
de Boer, M;
... Bustamante, J; + view all
(2018)
Inherited p40^{phox} deficiency differs from classic chronic granulomatous disease.
The Journal of Clinical Investigation
, 128
(9)
pp. 3957-3975.
10.1172/JCI97116.
|
van de Ven, AAJM;
Alfaro, TM;
Robinson, A;
Baumann, U;
Bergeron, A;
Burns, SO;
Condliffe, AM;
... Hurst, JR; + view all
(2020)
Managing Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders: e-GLILDnet International Clinicians Survey.
Frontiers in Immunology
, 11
, Article 606333. 10.3389/fimmu.2020.606333.
|
van Schewick, CM;
Lowe, DM;
Burns, SO;
Workman, S;
Symes, A;
Guzman, D;
Moreira, F;
... Grimbacher, B; + view all
(2021)
Bowel Histology of CVID Patients Reveals Distinct Patterns of Mucosal Inflammation.
Journal of Clinical Immunology
10.1007/s10875-021-01104-5.
|
Van Schewick, CM;
Nöltner, C;
Abel, S;
Burns, SO;
Workman, S;
Symes, A;
Guzman, D;
... Grimbacher, B; + view all
(2020)
Altered Microbiota, Impaired Quality of Life, Malabsorption, Infection, and Inflammation in CVID Patients With Diarrhoea.
Frontiers in Immunology
, 11
, Article 1654. 10.3389/fimmu.2020.01654.
|
Vandrovcova, J;
Salzer, U;
Grimbacher, B;
Wanders, J;
Rao, K;
Thrasher, A;
Burns, S;
... Cooper, N; + view all
(2019)
FAS mutations are an uncommon cause of immune thrombocytopenia in children and adults without additional features of immunodeficiency.
British Journal of Haematology
, 186
(6)
e163-e165.
10.1111/bjh.15979.
|
Verma, Nisha;
Tadros, Susan;
Bahal, Sameer;
Lowe, David M;
Burns, Siobhan O;
(2023)
Case of Fatal Meningitis in an Adult Patient with IRAK4 Deficiency.
Journal of Clinical Immunology
, 43
pp. 1137-1138.
10.1007/s10875-023-01490-y.
|
Verma, N;
Burns, SO;
Walker, LS;
Sansom, DM;
(2017)
Immune deficiency and autoimmunity in patients with CTLA-4 mutations.
Clinical & Experimental Immunology
, 190
(1)
pp. 1-7.
10.1111/cei.12997.
|
Whitworth, J;
Smith, PS;
Martin, J-E;
West, H;
Luchetti, A;
Rodger, F;
Clark, G;
... Maher, ER; + view all
(2018)
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
The American Journal of Human Genetics
, 103
(1)
pp. 3-18.
10.1016/j.ajhg.2018.04.013.
|
Yang, L;
Booth, C;
Speckmann, C;
Seidel, MG;
Worth, AJ;
Kindle, G;
Lankester, AC;
... Burns, SO; + view all
(2022)
Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency.
Journal of Allergy and Clinical Immunology
, 150
(2)
pp. 456-466.
10.1016/j.jaci.2021.10.037.
|
Zaman, M;
Huissoon, A;
Buckland, M;
Patel, S;
Alachkar, H;
Edgar, JD;
Thomas, M;
... Arkwright, PD; + view all
(2018)
Clinical and laboratory features of seventy-eight UK patients with Good's syndrome (thymoma and hypogammaglobulinaemia).
Clinical & Experimental Immunology
10.1111/cei.13216.
|
Conference item
Shejtman, A;
Aragao Filho, WC;
Weisser, M;
Zinicola, M;
Booth, C;
Burns, SO;
Siler, U;
... Santilli, G; + view all
(2017)
Lentiviral Gene Therapy for p47(phox) Deficient Chronic Granulomatous Disease.
Presented at: 20th Annual Meeting of the American Society of Gene and Cell Therapy (ASGCT), Washington, DC, United States.
|
Thesis
Nowak, K;
(2016)
Why do children with severe combined immunodeficiency get warts? The role of the common γ-chain in skin immunity.
Doctoral thesis , UCL (University College London).
|