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IKBKB gain of function: An inborn error with clinical heterogeneity progressing toward combined immunodeficiency.

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Title: IKBKB gain of function: An inborn error with clinical heterogeneity progressing toward combined immunodeficiency.
Authors: Körholz J; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany. Electronic address: Julia.koerholz@ukdd.de., Tromp SAM; Department of Pediatric Immunology, Rheumatology and Infectious Disease, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Experimental Immunology, Amsterdam institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Dalm VASH; Erasmus MC, University Medical Center Rotterdam, Department of Clinical Genetics, Erasmus, The Netherlands., de Bie M; Erasmus MC, University Medical Center Rotterdam, Laboratory Medical Immunology, Department of Immunology, Erasmus, The Netherlands., de Bree GJ; Department of Internal Medicine, Institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., van Leeuwen EMM; Department of Experimental Immunology, Amsterdam institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Laboratory Medicine, Laboratory for Specialized Diagnostics and Research, Section Medical Immunology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Fraaij PLA; Erasmus MC, University Medical Center Rotterdam-Sophia Children's Hospital, Department of Pediatrics, Division of Pediatric Infectious Disease and Immunology, Erasmus, The Netherlands., Jansen MH; Department of Experimental Immunology, Amsterdam institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Hollink IHIM; Erasmus MC, University Medical Center Rotterdam, Department of Clinical Genetics, Erasmus, The Netherlands., Nagelkerke SQ; Department of Pediatric Immunology, Rheumatology and Infectious Disease, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Russ S; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Scholze AK; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Soomann M; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland., Wiedemuth R; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Pachlopnik Schmid J; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland; University of Zurich, Zurich, Switzerland., Hanitsch LG; Institute of Medical Immunology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt Universität zu Berlin and the Berlin Institute of Health (BIH), BIH Center for Regenerative Therapies, Berlin, Germany., Schuetz C; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany; German Center for Child and Adolescent Health (DZKJ), partner site Leipzig/Dresden, Dresden, Germany., Kuijpers TW; Department of Pediatric Immunology, Rheumatology and Infectious Disease, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Experimental Immunology, Amsterdam institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., IJspeert H; Erasmus MC, University Medical Center Rotterdam, Laboratory Medical Immunology, Department of Immunology, Erasmus, The Netherlands.
Source: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2025 Aug; Vol. 156 (2), pp. 279-293. Date of Electronic Publication: 2025 May 20.
Publication Type: Journal Article
Journal Info: Publisher: Mosby Country of Publication: United States NLM ID: 1275002 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6825 (Electronic) Linking ISSN: 00916749 NLM ISO Abbreviation: J Allergy Clin Immunol Subsets: MEDLINE
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  Data: IKBKB gain of function: An inborn error with clinical heterogeneity progressing toward combined immunodeficiency.
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  Data: <searchLink fieldCode="AU" term="%22Körholz+J%22">Körholz J</searchLink>; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany. Electronic address: Julia.koerholz@ukdd.de.<br /><searchLink fieldCode="AU" term="%22Tromp+SAM%22">Tromp SAM</searchLink>; Department of Pediatric Immunology, Rheumatology and Infectious Disease, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Experimental Immunology, Amsterdam institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Dalm+VASH%22">Dalm VASH</searchLink>; Erasmus MC, University Medical Center Rotterdam, Department of Clinical Genetics, Erasmus, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Bie+M%22">de Bie M</searchLink>; Erasmus MC, University Medical Center Rotterdam, Laboratory Medical Immunology, Department of Immunology, Erasmus, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Bree+GJ%22">de Bree GJ</searchLink>; Department of Internal Medicine, Institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Leeuwen+EMM%22">van Leeuwen EMM</searchLink>; Department of Experimental Immunology, Amsterdam institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Laboratory Medicine, Laboratory for Specialized Diagnostics and Research, Section Medical Immunology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Fraaij+PLA%22">Fraaij PLA</searchLink>; Erasmus MC, University Medical Center Rotterdam-Sophia Children's Hospital, Department of Pediatrics, Division of Pediatric Infectious Disease and Immunology, Erasmus, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Jansen+MH%22">Jansen MH</searchLink>; Department of Experimental Immunology, Amsterdam institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Hollink+IHIM%22">Hollink IHIM</searchLink>; Erasmus MC, University Medical Center Rotterdam, Department of Clinical Genetics, Erasmus, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Nagelkerke+SQ%22">Nagelkerke SQ</searchLink>; Department of Pediatric Immunology, Rheumatology and Infectious Disease, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Russ+S%22">Russ S</searchLink>; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.<br /><searchLink fieldCode="AU" term="%22Scholze+AK%22">Scholze AK</searchLink>; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.<br /><searchLink fieldCode="AU" term="%22Soomann+M%22">Soomann M</searchLink>; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Wiedemuth+R%22">Wiedemuth R</searchLink>; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.<br /><searchLink fieldCode="AU" term="%22Pachlopnik+Schmid+J%22">Pachlopnik Schmid J</searchLink>; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland; University of Zurich, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Hanitsch+LG%22">Hanitsch LG</searchLink>; Institute of Medical Immunology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt Universität zu Berlin and the Berlin Institute of Health (BIH), BIH Center for Regenerative Therapies, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Schuetz+C%22">Schuetz C</searchLink>; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany; German Center for Child and Adolescent Health (DZKJ), partner site Leipzig/Dresden, Dresden, Germany.<br /><searchLink fieldCode="AU" term="%22Kuijpers+TW%22">Kuijpers TW</searchLink>; Department of Pediatric Immunology, Rheumatology and Infectious Disease, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Experimental Immunology, Amsterdam institute for Infection and Immunity, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22IJspeert+H%22">IJspeert H</searchLink>; Erasmus MC, University Medical Center Rotterdam, Laboratory Medical Immunology, Department of Immunology, Erasmus, The Netherlands.
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  Data: <searchLink fieldCode="JN" term="%221275002%22">The Journal of allergy and clinical immunology</searchLink> [J Allergy Clin Immunol] 2025 Aug; Vol. 156 (2), pp. 279-293. <i>Date of Electronic Publication: </i>2025 May 20.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Mosby%22">Mosby </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>1275002 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1097-6825 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200916749%22">00916749 </searchLink><i>NLM ISO Abbreviation: </i>J Allergy Clin Immunol <i>Subsets: </i>MEDLINE
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