Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

Autor: Béziat, V, Tavernier, SJ, Chen, Y-H, Laurence, A, Aschenbrenner, D, Gartner, L, Keles, S, Ciznar, P, Grimbacher, B, Uhlig, HH

Autosomal dominant hyper-IgE syndrome (AD-HIES) is typically caused by dominant-negative (DN) STAT3 mutations. Patients suffer from cold staphylococcal lesions and mucocutaneous candidiasis, severe allergy, and skeletal abnormalities. We report 12 pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1064::439f246da1c895a5fbf60963b81b2e12
https://doi.org/10.1084/jem.20191804

Identification of a 5-Plex Cytokine Signature that Differentiates Patients with Multiple Systemic Inflammatory Diseases.

Autor: Hoste L; Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Corneel Heymanslaan 10, 9000, Ghent, Belgium.; Department of Internal Medicine and Pediatrics, Division of Pediatric Pulmonology, Infectious Diseases and Inborn Errors of Immunity ,Ghent University Hospital, European Reference Network for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases Network (ERN-RITA) Center, Ghent, Belgium., Meertens B; Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Corneel Heymanslaan 10, 9000, Ghent, Belgium.; Department of Internal Medicine and Pediatrics, Division of Pediatric Pulmonology, Infectious Diseases and Inborn Errors of Immunity ,Ghent University Hospital, European Reference Network for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases Network (ERN-RITA) Center, Ghent, Belgium., Ogunjimi B; Rheumatology Department, Antwerp Hospital Network, Antwerp, Belgium.; Division of Pediatric Rheumatology, Antwerp University Hospital, Edegem, Belgium.; Antwerp Center for Pediatric Rheumatology and Autoinflammatory Diseases, Antwerp, Belgium.; Division of Pediatric Rheumatology, Brussels University Hospital, Jette, Belgium.; Antwerp Center for Translational Immunology and Virology (ACTIV), Vaccine and Infectious Disease Institute (VAXINFECTIO) ,Centre for Health Economics Research and Modeling Infectious Diseases (CHERMID), University of Antwerp, Antwerp, Belgium., Sabato V; Department of Immunology, Allergology, and Rheumatology, Antwerp University Hospital, Edegem, Belgium., Guerti K; Department of Clinical Chemistry, Antwerp University Hospital, Edegem, Belgium., van der Hilst J; Department of Infectious Diseases and Immune Pathology, Jessa General Hospital, Hasselt, Belgium.; Limburg Clinical Research Center, Hasselt University, Hasselt, Belgium., Bogie J; Department of Immunology and Infection, Biomedical Research Institute, Hasselt University, Hasselt, Belgium.; University MS Centre, Hasselt University, Hasselt, Belgium., Joos R; Division of Pediatric Rheumatology, Antwerp University Hospital, Edegem, Belgium.; Department of Immunology, Allergology, and Rheumatology, Antwerp University Hospital, Edegem, Belgium.; Department of Pediatric Rheumatology, Ghent University Hospital, European Reference Network for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN-RITA) Center, Ghent, Belgium., Claes K; Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Corneel Heymanslaan 10, 9000, Ghent, Belgium.; Department of Internal Medicine and Pediatrics, Division of Pediatric Pulmonology, Infectious Diseases and Inborn Errors of Immunity ,Ghent University Hospital, European Reference Network for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases Network (ERN-RITA) Center, Ghent, Belgium., Debacker V; Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Corneel Heymanslaan 10, 9000, Ghent, Belgium., Janssen F; Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Tavernier SJ; Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Corneel Heymanslaan 10, 9000, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomedical Molecular Biology, Ghent University, Ghent, Belgium.; Unit of Molecular Signal Transduction in Inflammation, VIB-UGent Center for Inflammation Research, Ghent, Belgium., Jacques P; Department of Rheumatology, University Hospital Ghent, Ghent, Belgium., Callens S; Department of General Internal Medicine, Ghent University Hospital, Ghent, Belgium., Dehoorne J; Department of Pediatric Rheumatology, Ghent University Hospital, European Reference Network for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN-RITA) Center, Ghent, Belgium., Haerynck F; Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Corneel Heymanslaan 10, 9000, Ghent, Belgium. filomeen.haerynck@uzgent.be.; Department of Internal Medicine and Pediatrics, Division of Pediatric Pulmonology, Infectious Diseases and Inborn Errors of Immunity ,Ghent University Hospital, European Reference Network for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases Network (ERN-RITA) Center, Ghent, Belgium. filomeen.haerynck@uzgent.be.

Publikováno v: Inflammation [Inflammation] 2024 Nov 12. Date of Electronic Publication: 2024 Nov 12.

Serum proteomics reveals hemophagocytic lymphohistiocytosis-like phenotype in a subset of patients with multisystem inflammatory syndrome in children.

Autor: Tulling AJ; Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, the Netherlands., Holierhoek MG; Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, the Netherlands., Jansen-Hoogendijk AM; Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, the Netherlands., Hoste L; Primary Immunodeficiency Research Lab (PIRL), Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium; Center for Primary Immunodeficiency, Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital, Ghent, Belgium., Haerynck F; Primary Immunodeficiency Research Lab (PIRL), Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium; Center for Primary Immunodeficiency, Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital, Ghent, Belgium., Tavernier SJ; Primary Immunodeficiency Research Lab (PIRL), Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium; Center for Primary Immunodeficiency, Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital, Ghent, Belgium., Oostenbrink R; Department of General Pediatrics, Sophia Children's Hospital, Erasmus MC, Rotterdam, the Netherlands., Buysse CMP; Department of Neonatal and Pediatric Intensive Care, Division of Pediatric Intensive Care, Erasmus MC Sophia Children's Hospital, Rotterdam, the Netherlands., Bannier MAGE; Department of Pediatrics, MosaKids Children's Hospital, University Medical Center Maastricht, Maastricht, the Netherlands., Bekhof J; Department of Pediatrics, Isala Hospital, Zwolle, the Netherlands., Breukels M; Department of Pediatrics, Elkerliek Hospital, Helmond, the Netherlands., Hammer SC; Department of Pediatrics, Amphia Hospital, Breda, the Netherlands., Jacobs MAM; Department of Pediatrics, Slingeland Hospital, Doetinchem, the Netherlands., Kamps AWA; Department of Pediatrics, Martini Hospital, Groningen, the Netherlands., van der Linden JW; Department of Pediatrics, Bernhoven Hospital, Uden, the Netherlands., Lebon A; Department of Pediatrics, Albert Schweitzer Hospital, Dordrecht, the Netherlands., Oudshoorn JH; Department of Pediatrics, Gelre Hospital, Apeldoorn, the Netherlands., Tramper-Stranders GA; Department of Pediatrics, Franciscus Gasthuis and Vlietland, Rotterdam, the Netherlands., Vastert SJ; Department of Pediatric Rheumatology, University Medical Center Utrecht, Utrecht, the Netherlands., Wieringa JW; Department of Pediatrics, Haaglanden Medical Center, the Hague, the Netherlands., Terheggen-Lagro SWJ; Department of Pediatric Pulmonology and Allergy, Amsterdam University Medical Centers, Amsterdam, the Netherlands., Wildenbeest JG; Department of Pediatric Infectious Diseases, University Medical Center Utrecht, Utrecht, the Netherlands., von Asmuth EGJ; Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, the Netherlands., van den Akker EB; Leiden Computational Biology Center, Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, the Netherlands; The Delft Bioinformatics Lab, Pattern Recognition & Bioinformatics, Delft University of Technology, Delft, the Netherlands., van Gijn ME; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Lugthart G; Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, the Netherlands., Buddingh EP; Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, the Netherlands. Electronic address: e.p.buddingh@lumc.nl.

Publikováno v: Clinical immunology (Orlando, Fla.) [Clin Immunol] 2024 Jul; Vol. 264, pp. 110252. Date of Electronic Publication: 2024 May 12.

Alterations in the innate and adaptive immune system in a real-world cohort of multiple sclerosis patients treated with ocrelizumab.

Autor: Beckers L; University MS Center (UMSC), Hasselt-Pelt, Hasselt, Belgium; Department of Immunology and Infection, Biomedical Research Institute, Hasselt University, Hasselt, Belgium., Baeten P; University MS Center (UMSC), Hasselt-Pelt, Hasselt, Belgium; Department of Immunology and Infection, Biomedical Research Institute, Hasselt University, Hasselt, Belgium., Popescu V; University MS Center (UMSC), Hasselt-Pelt, Hasselt, Belgium; Department of Immunology and Infection, Biomedical Research Institute, Hasselt University, Hasselt, Belgium; Noorderhart, Rehabilitation and MS Center, Pelt, Belgium., Swinnen D; University MS Center (UMSC), Hasselt-Pelt, Hasselt, Belgium; Department of Immunology and Infection, Biomedical Research Institute, Hasselt University, Hasselt, Belgium; VIB Laboratory of Translational Immunomodulation, Center for Inflammation Research (IRC), Diepenbeek, Belgium., Cardilli A; University MS Center (UMSC), Hasselt-Pelt, Hasselt, Belgium; Department of Immunology and Infection, Biomedical Research Institute, Hasselt University, Hasselt, Belgium; VIB Laboratory of Translational Immunomodulation, Center for Inflammation Research (IRC), Diepenbeek, Belgium., Hamad I; University MS Center (UMSC), Hasselt-Pelt, Hasselt, Belgium; Department of Immunology and Infection, Biomedical Research Institute, Hasselt University, Hasselt, Belgium; VIB Laboratory of Translational Immunomodulation, Center for Inflammation Research (IRC), Diepenbeek, Belgium., Van Wijmeersch B; University MS Center (UMSC), Hasselt-Pelt, Hasselt, Belgium; Department of Immunology and Infection, Biomedical Research Institute, Hasselt University, Hasselt, Belgium; Noorderhart, Rehabilitation and MS Center, Pelt, Belgium., Tavernier SJ; Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium; Unit of Molecular Signal Transduction in Inflammation, VIB-UGent Center for Inflammation Research (IRC), Ghent, Belgium., Kleinewietfeld M; University MS Center (UMSC), Hasselt-Pelt, Hasselt, Belgium; Department of Immunology and Infection, Biomedical Research Institute, Hasselt University, Hasselt, Belgium; VIB Laboratory of Translational Immunomodulation, Center for Inflammation Research (IRC), Diepenbeek, Belgium., Broux B; University MS Center (UMSC), Hasselt-Pelt, Hasselt, Belgium; Department of Immunology and Infection, Biomedical Research Institute, Hasselt University, Hasselt, Belgium., Fraussen J; University MS Center (UMSC), Hasselt-Pelt, Hasselt, Belgium; Department of Immunology and Infection, Biomedical Research Institute, Hasselt University, Hasselt, Belgium., Somers V; University MS Center (UMSC), Hasselt-Pelt, Hasselt, Belgium; Department of Immunology and Infection, Biomedical Research Institute, Hasselt University, Hasselt, Belgium. Electronic address: veerle.somers@uhasselt.be.

Publikováno v: Clinical immunology (Orlando, Fla.) [Clin Immunol] 2024 Feb; Vol. 259, pp. 109894. Date of Electronic Publication: 2024 Jan 06.

A complement atlas identifies interleukin-6-dependent alternative pathway dysregulation as a key druggable feature of COVID-19.

Autor: Van Damme KFA; Department of Internal Medicine and Pediatrics, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; Laboratory of Mucosal Immunology, VIB-UGent Center for Inflammation Research, Ghent University, Ghent, Belgium.; Department of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium., Hoste L; Department of Internal Medicine and Pediatrics, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University, Ghent, Belgium., Declercq J; Department of Internal Medicine and Pediatrics, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; Laboratory of Mucosal Immunology, VIB-UGent Center for Inflammation Research, Ghent University, Ghent, Belgium.; Department of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium., De Leeuw E; Department of Internal Medicine and Pediatrics, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; Laboratory of Mucosal Immunology, VIB-UGent Center for Inflammation Research, Ghent University, Ghent, Belgium.; Department of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium., Maes B; Department of Internal Medicine and Pediatrics, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; Laboratory of Mucosal Immunology, VIB-UGent Center for Inflammation Research, Ghent University, Ghent, Belgium.; Department of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium., Martens L; Laboratory of Myeloid Cell Biology in Tissue Homeostasis and Regeneration, VIB-UGent Center for Inflammation Research, Ghent University, Ghent, Belgium.; Laboratory of Myeloid Cell Biology in Tissue Damage and Inflammation, VIB-UGent Center for Inflammation Research, Ghent University, Ghent, Belgium.; Department of Biomedical Molecular Biology, Faculty of Science, Ghent University, Belgium., Colman R; Biostatistics Unit, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Browaeys R; Bioinformatics Expertise Unit, VIB Center for Inflammation Research, Ghent, Belgium.; Department of Applied Mathematics, Computer Science and Statistics, Ghent University, Ghent, Belgium., Bosteels C; Department of Internal Medicine and Pediatrics, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; Laboratory of Mucosal Immunology, VIB-UGent Center for Inflammation Research, Ghent University, Ghent, Belgium.; Department of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium.; Respiratory Infection and Defense Lab, Department of Internal Medicine and Pediatrics, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Verwaerde S; Department of Internal Medicine and Pediatrics, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; Laboratory of Mucosal Immunology, VIB-UGent Center for Inflammation Research, Ghent University, Ghent, Belgium., Vermeulen N; Department of Internal Medicine and Pediatrics, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University, Ghent, Belgium., Lameire S; Department of Internal Medicine and Pediatrics, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; Laboratory of Mucosal Immunology, VIB-UGent Center for Inflammation Research, Ghent University, Ghent, Belgium., Debeuf N; Department of Internal Medicine and Pediatrics, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; Laboratory of Mucosal Immunology, VIB-UGent Center for Inflammation Research, Ghent University, Ghent, Belgium., Deckers J; Department of Internal Medicine and Pediatrics, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; Laboratory of Mucosal Immunology, VIB-UGent Center for Inflammation Research, Ghent University, Ghent, Belgium., Stordeur P; Belgian National Reference Center for the Complement System, Laboratory of Immunology, LHUB-ULB, Université Libre de Bruxelles, Brussels, Belgium., Depuydt P; Department of Internal Medicine and Pediatrics, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; Intensive Care Unit, Ghent University Hospital, Ghent, Belgium., Van Braeckel E; Department of Internal Medicine and Pediatrics, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; Department of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium.; Respiratory Infection and Defense Lab, Department of Internal Medicine and Pediatrics, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Vandekerckhove L; Department of Internal Medicine and Pediatrics, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; Department of Biomedical Molecular Biology, Faculty of Science, Ghent University, Belgium.; HIV Cure Research Center, Department of Internal Medicine and Pediatrics, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium., Guilliams M; Laboratory of Myeloid Cell Biology in Tissue Homeostasis and Regeneration, VIB-UGent Center for Inflammation Research, Ghent University, Ghent, Belgium.; Laboratory of Myeloid Cell Biology in Tissue Damage and Inflammation, VIB-UGent Center for Inflammation Research, Ghent University, Ghent, Belgium.; Department of Biomedical Molecular Biology, Faculty of Science, Ghent University, Belgium., Schetters STT; Department of Internal Medicine and Pediatrics, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; Laboratory of Mucosal Immunology, VIB-UGent Center for Inflammation Research, Ghent University, Ghent, Belgium., Haerynck F; Department of Internal Medicine and Pediatrics, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University, Ghent, Belgium., Tavernier SJ; Department of Internal Medicine and Pediatrics, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University, Ghent, Belgium., Lambrecht BN; Department of Internal Medicine and Pediatrics, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; Laboratory of Mucosal Immunology, VIB-UGent Center for Inflammation Research, Ghent University, Ghent, Belgium.; Department of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium.; Department of Pulmonary Medicine, Erasmus MC, Rotterdam, Netherlands.

Publikováno v: Science translational medicine [Sci Transl Med] 2023 Aug 23; Vol. 15 (710), pp. eadi0252. Date of Electronic Publication: 2023 Aug 23.