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

This study broadens the clinical spectrum of IKBKB gain-of-function variants as a progressive immunodeficiency in adulthood.

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Publication Details

Journal
Journal of Allergy and Clinical Immunology
Published
2025-05-20
DOI
https://doi.org/10.1016/j.jaci.2025.04.033
Citations
2
Primary Topic
NF-κB Signaling Pathways
Type
article
Field-Weighted Citation Impact
1.87

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article

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

Samantha A. M. Tromp, Julia Körholz, Taco W. Kuijpers, Sietse Q. Nagelkerke et al.
2 citations
Journal of Allergy and Clinical Immunology
NF-κB Signaling Pathways
1.87
article

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

Samantha A. M. Tromp, Julia Körholz, Taco W. Kuijpers, Sietse Q. Nagelkerke, Maarja Soomann, Virgil A. S. H. Dalm, Ralf Wiedemuth, Iris H.I.M. Hollink, Godelieve J. de Bree, Leif G. Hanitsch, Maaike de Bie, Hanna IJspeert, Jana Pachlopnik Schmid, Machiel H. Jansen, Ester M. M. van Leeuwen, Catharina Schuetz, Pieter L. A. Fraaij, Susanne Ruß, Anne-Kathleen Scholze
article en
2 citations

Abstract

This study broadens the clinical spectrum of IKBKB gain-of-function variants as a progressive immunodeficiency in adulthood.

Journal of Allergy and Clinical ImmunologyVol. 156(2)
Erasmus MC (NL), Humboldt-Universität zu Berlin (DE), University Children's Hospital Zurich (CH), Berlin Institute of Health at Charité - Universitätsmedizin Berlin (DE), Erasmus MC - Sophia Children’s Hospital (NL), Amsterdam University Medical Centers (NL), University Hospital Carl Gustav Carus (DE), Institute of Infection and Immunity (CA), Freie Universität Berlin (DE), Technische Universität Dresden (DE), University of Amsterdam (NL)
Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung, Bundesministerium für Bildung und Forschung, Else Kröner-Fresenius-Stiftung, Universität Zürich, Eva Luise und Horst Köhler Stiftung
Zero hunger
Openalex Percentile: Top 15%
NF-κB Signaling Pathways
1.87
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