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
Database: MEDLINE Ultimate
Description
ISSN:1097-6825
DOI:10.1016/j.jaci.2025.04.033