Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.

Autor: Blanco E; Molecular and Cellular Immunology, Great Ormond Street Institute of Child Health, University College London , London, UK., Camps C; National Institute for Health Research Oxford Biomedical Research Centre, University of Oxford , Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford , Oxford, UK., Bahal S; Molecular and Cellular Immunology, Great Ormond Street Institute of Child Health, University College London , London, UK., Kerai MD; Molecular and Cellular Immunology, Great Ormond Street Institute of Child Health, University College London , London, UK.; Immunology Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Ferla MP; National Institute for Health Research Oxford Biomedical Research Centre, University of Oxford , Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford , Oxford, UK., Rochussen AM; Cambridge Institute for Medical Research, University of Cambridge , Cambridge, UK., Handel AE; Department of Paediatrics and Institute of Developmental and Regenerative Medicine, University of Oxford, Oxford, UK., Golwala ZM; Molecular and Cellular Immunology, Great Ormond Street Institute of Child Health, University College London , London, UK.; Department of Paediatric Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Spiridou Goncalves H; Molecular and Cellular Immunology, Great Ormond Street Institute of Child Health, University College London , London, UK., Kricke S; SIHMDS-Haematology Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Klein F; Department of Paediatrics and Institute of Developmental and Regenerative Medicine, University of Oxford, Oxford, UK., Zhang F; Molecular and Cellular Immunology, Great Ormond Street Institute of Child Health, University College London , London, UK., Zinghirino F; Molecular and Cellular Immunology, Great Ormond Street Institute of Child Health, University College London , London, UK., Evans G; Molecular and Cellular Immunology, Great Ormond Street Institute of Child Health, University College London , London, UK., Keane TM; Wellcome Sanger Institute , Cambridge, UK.; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, UK., Lizot S; Human Lymphohematopoiesis Laboratory, Imagine Institute, INSERM UMR 1163, Université Paris Cité, Paris, France., Kusters MAA; Department of Paediatric Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Iro MA; Department of Paediatric Infectious Diseases and Immunology, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Faculty of Medicine and Institute of Life Sciences, University of Southampton, Southampton, UK., Patel SV; Department of Paediatric Infectious Diseases and Immunology, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Morris EC; Department of Immunology, Royal Free London Hospitals NHS Foundation Trust, London, UK.; Institute for Immunity and Transplantation, University College London , London, UK., Burns SO; Department of Immunology, Royal Free London Hospitals NHS Foundation Trust, London, UK.; Institute for Immunity and Transplantation, University College London , London, UK., Radcliffe R; Department of Immunology, University Hospitals of Leicester NHS Trust, Leicester, UK., Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester, UK., Price A; Department of Immunology, University Hospitals of Leicester NHS Trust, Leicester, UK., Gillham O; Department of Cell and Developmental Biology and Consortium for Mitochondrial Research, University College London, London, UK., Valdebenito GE; Department of Cell and Developmental Biology and Consortium for Mitochondrial Research, University College London, London, UK., Stewart GS; Institute of Cancer and Genomic Sciences, University of Birmingham , Birmingham, UK., Worth A; Department of Paediatric Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Adams SP; SIHMDS-Haematology Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Duchen M; Department of Cell and Developmental Biology and Consortium for Mitochondrial Research, University College London, London, UK., André I; Human Lymphohematopoiesis Laboratory, Imagine Institute, INSERM UMR 1163, Université Paris Cité, Paris, France., Adams DJ; Wellcome Sanger Institute , Cambridge, UK., Santili G; Molecular and Cellular Immunology, Great Ormond Street Institute of Child Health, University College London , London, UK., Gilmour KC; Immunology Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Holländer GA; Department of Paediatrics and Institute of Developmental and Regenerative Medicine, University of Oxford, Oxford, UK.; Paediatric Immunology, Department of Biomedicine, University of Basel and University Children's Hospital, Basel, Switzerland.; Department of Biosystems Science and Engineering, ETH Zurich, Basel, Switzerland., Davies EG; Molecular and Cellular Immunology, Great Ormond Street Institute of Child Health, University College London , London, UK.; Department of Paediatric Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Taylor JC; National Institute for Health Research Oxford Biomedical Research Centre, University of Oxford , Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford , Oxford, UK., Griffiths GM; Cambridge Institute for Medical Research, University of Cambridge , Cambridge, UK., Thrasher AJ; Molecular and Cellular Immunology, Great Ormond Street Institute of Child Health, University College London , London, UK.; Department of Paediatric Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Dhalla F; Department of Paediatrics and Institute of Developmental and Regenerative Medicine, University of Oxford, Oxford, UK.; Department of Clinical Immunology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Kreins AY; Molecular and Cellular Immunology, Great Ormond Street Institute of Child Health, University College London , London, UK.; Department of Paediatric Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre , London, UK.

Publikováno v: The Journal of experimental medicine [J Exp Med] 2025 Jan 06; Vol. 222 (1). Date of Electronic Publication: 2024 Nov 19.

Case series: Congenital enterovirus infection-associated haemophagocytic lymphohistiocytosis and subsequent neutropaenia.

Autor: Penner J; Department of Paediatric Infectious Diseases Great Ormond Street Hospital London UK., Burns JE; UCL Centre for Clinical Research in Infection and Sexual Health Institute for Global Health London UK., Breuer J; Department of Paediatric Infectious Diseases Great Ormond Street Hospital London UK.; Division of Infection and Immunity University College London London UK., Gilmour KC; Infection Section UCL Great Ormond Street Institute of Child Health London UK.; Department of Paediatric Immunology Great Ormond Street Hospital London UK., Bamford A; Department of Paediatric Infectious Diseases Great Ormond Street Hospital London UK.; Infection Section UCL Great Ormond Street Institute of Child Health London UK., Rao A; Department of Paediatric Hematology Great Ormond Street Hospital London UK.

Publikováno v: EJHaem [EJHaem] 2024 Jun 18; Vol. 5 (4), pp. 784-788. Date of Electronic Publication: 2024 Jun 18 (Print Publication: 2024).

Salivary IgA and vimentin differentiate in vitro SARS-CoV-2 infection: A study of 290 convalescent COVID-19 patients.

Autor: Ellis S; UCL Great Ormond Street Institute of Child Health, London, UK., Way R; UCL Great Ormond Street Institute of Child Health, London, UK., Nel M; UCL Great Ormond Street Institute of Child Health, London, UK., Burleigh A; UCL Great Ormond Street Institute of Child Health, London, UK; Centre for Adolescent Rheumatology, University College London, London, UK., Doykov I; UCL Great Ormond Street Institute of Child Health, London, UK., Kembou-Ringert J; UCL Great Ormond Street Institute of Child Health, London, UK., Woodall M; UCL Great Ormond Street Institute of Child Health, London, UK., Masonou T; UCL Great Ormond Street Institute of Child Health, London, UK., Case KM; UCL Great Ormond Street Institute of Child Health, London, UK., Ortez AT; UCL Great Ormond Street Institute of Child Health, London, UK., McHugh TD; UCL Centre for Clinical Microbiology, Royal Free Hospital, London, UK., Casal A; Department of Pharmaceutics, UCL School of Pharmacy, London, UK., McCoy LE; Institute of Immunity and Transplantation, Division of Infection and Immunity, University College London, London, UK., Murdan S; Department of Pharmaceutics, UCL School of Pharmacy, London, UK., Hynds RE; Epithelial Cell Biology in ENT Research (EpiCENTR) Group, Developmental Biology and Cancer Department, UCL Great Ormond Street Institute of Child Health, London, UK., Gilmour KC; UCL Great Ormond Street Institute of Child Health, London, UK; Great Ormond Street Hospital NHS Foundation Trust, London, UK., Grandjean L; UCL Great Ormond Street Institute of Child Health, London, UK; Great Ormond Street Hospital NHS Foundation Trust, London, UK., Cortina-Borja M; UCL Great Ormond Street Institute of Child Health, London, UK., Heywood WE; UCL Great Ormond Street Institute of Child Health, London, UK., Mills K; UCL Great Ormond Street Institute of Child Health, London, UK., Smith CM; UCL Great Ormond Street Institute of Child Health, London, UK. Electronic address: c.m.smith@ucl.ac.uk.

Publikováno v: Mucosal immunology [Mucosal Immunol] 2024 Feb; Vol. 17 (1), pp. 124-136. Date of Electronic Publication: 2023 Nov 24.

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

Autor: Cooray S; Infection, Immunity and Inflammation Department, University College London Great Ormond Street Institute of Child Health, London, United Kingdom., Price-Kuehne F; Infection, Immunity and Inflammation Department, University College London Great Ormond Street Institute of Child Health, London, United Kingdom., Hong Y; Infection, Immunity and Inflammation Department, University College London Great Ormond Street Institute of Child Health, London, United Kingdom., Omoyinmi E; Infection, Immunity and Inflammation Department, University College London Great Ormond Street Institute of Child Health, London, United Kingdom., Burleigh A; Infection, Immunity and Inflammation Department, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.; Centre for Adolescent Rheumatology Versus Arthritis, University College London, London, United Kingdom., Gilmour KC; Department of Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Ahmad B; Department of Molecular Science and Technology, Ajou University, Suwon, Republic of Korea., Choi S; Department of Molecular Science and Technology, Ajou University, Suwon, Republic of Korea., Bahar MW; Division of Structural Biology, University of Oxford, The Wellcome Centre for Human Genetics, Oxford, United Kingdom., Torpiano P; Department of Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Gagunashvili A; Faculty of Life and Environmental Sciences, University of Iceland, Reykjavík, Iceland., Jensen B; Infection, Immunity and Inflammation Department, University College London Great Ormond Street Institute of Child Health, London, United Kingdom., Bellos E; Section of Paediatric Infectious Diseases, Imperial College London, London, United Kingdom.; Centre for Paediatrics and Child Health, Faculty of Medicine, Imperial College London, London, United Kingdom., Sancho-Shimizu V; Section of Paediatric Infectious Diseases, Imperial College London, London, United Kingdom.; Centre for Paediatrics and Child Health, Faculty of Medicine, Imperial College London, London, United Kingdom., Herberg JA; Section of Paediatric Infectious Diseases, Imperial College London, London, United Kingdom.; Department of Paediatric Infectious Diseases, St Mary's Hospital, Imperial College NHS Healthcare Trust, London, United Kingdom., Mankad K; Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Kumar A; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Kaliakatsos M; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Worth AJJ; Department of Immunology and Gene Therapy, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Eleftheriou D; Infection, Immunity and Inflammation Department, University College London Great Ormond Street Institute of Child Health, London, United Kingdom., Whittaker E; Section of Paediatric Infectious Diseases, Imperial College London, London, United Kingdom.; Department of Paediatric Infectious Diseases, St Mary's Hospital, Imperial College NHS Healthcare Trust, London, United Kingdom., Brogan PA; Infection, Immunity and Inflammation Department, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.

Publikováno v: Frontiers in immunology [Front Immunol] 2023 Sep 06; Vol. 14, pp. 1231749. Date of Electronic Publication: 2023 Sep 06 (Print Publication: 2023).

Genomic diagnosis and care co-ordination for monogenic inflammatory bowel disease in children and adults: consensus guideline on behalf of the British Society of Gastroenterology and British Society of Paediatric Gastroenterology, Hepatology and Nutrition.

Autor: Kammermeier J; Department of Paediatric Gastroenterology, Evelina London Children's Hospital, London, UK., Lamb CA; Translational & Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK; Department of Gastroenterology, Royal Victoria Infirmary, Newcastle upon Tyne, UK., Jones KDJ; Department of Gastroenterology, Great Ormond Street Hospital for Children, London, UK; Kennedy Institute of Rheumatology, Nuffield Department of Orthopaedics, University of Oxford, Oxford, UK., Anderson CA; Wellcome Sanger Institute, Hinxton, Cambridgeshire, UK., Baple EL; University of Exeter Medical School, Royal Devon & Exeter Hospital, Exeter, UK., Bolton C; Department of Infection, Immunity and Inflammation, UCL Great Ormond Street Institute of Child Health, London, UK., Braggins H; Department of Immunology, Great Ormond Street Hospital of Children NHS Foundation Trust and NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK; Chronic Granulomatous Disorder Society, Dartford, UK., Coulter TI; Regional Immunology Service for Northern Ireland, Belfast, UK., Gilmour KC; Clinical Immunology Laboratory, Great Ormond Street Hospital of Children NHS Foundation Trust and NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK., Gregory V; Crohn's & Colitis UK, Hatfield, UK., Hambleton S; Translational & Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK; Department of Paediatric Immunology, Great North Children's Hospital, Newcastle upon Tyne, UK., Hartley D; XLP Research Trust, Romsey, Hampshire, UK., Hawthorne AB; Department of Gastroenterology, University Hospital of Wales, Cardiff, UK., Hearn S; Translational Gastroenterology Unit and Biomedical Research Centre, University of Oxford, Oxford, UK., Laurence A; Department of Clinical Immunology, Royal Free Hospital, London, UK; Department of Haematology and Bone Marrow Transplantation, University College Hospital, London, UK., Parkes M; Department of Gastroenterology, Addenbrooke's Hospital, Cambridge, UK., Russell RK; Child Life and Health, University of Edinburgh, The Royal Hospital for Children & Young People, Edinburgh, UK; Department of Paediatric Gastroenterology, The Royal Hospital for Children & Young People, Edinburgh, UK; Department of Paediatric Gastroenterology, The Royal Hospital for Children & Young People, Edinburgh, UK., Speight RA; Translational & Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK; Department of Gastroenterology, Royal Victoria Infirmary, Newcastle upon Tyne, UK., Travis S; Translational Gastroenterology Unit and Biomedical Research Centre, University of Oxford, Oxford, UK., Wilson DC; Child Life and Health, University of Edinburgh, The Royal Hospital for Children & Young People, Edinburgh, UK; Department of Paediatric Gastroenterology, The Royal Hospital for Children & Young People, Edinburgh, UK; Department of Paediatric Gastroenterology, The Royal Hospital for Children & Young People, Edinburgh, UK., Uhlig HH; Translational Gastroenterology Unit and Biomedical Research Centre, University of Oxford, Oxford, UK; Department of Paediatrics, University of Oxford, Oxford, UK. Electronic address: holm.uhlig@ndm.ox.ac.uk.

Publikováno v: The lancet. Gastroenterology & hepatology [Lancet Gastroenterol Hepatol] 2023 Mar; Vol. 8 (3), pp. 271-286. Date of Electronic Publication: 2023 Jan 09.