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.
Authors
- Samantha A. M. Tromp
- Julia Körholz (ORCID: https://orcid.org/0000-0001-6313-4434)
- Taco W. Kuijpers (ORCID: https://orcid.org/0000-0002-7421-3370)
- Sietse Q. Nagelkerke (ORCID: https://orcid.org/0000-0001-8359-4016)
- Maarja Soomann (ORCID: https://orcid.org/0000-0002-2237-5327)
- Virgil A. S. H. Dalm (ORCID: https://orcid.org/0000-0001-5945-4435)
- Ralf Wiedemuth
- Iris H.I.M. Hollink
- Godelieve J. de Bree (ORCID: https://orcid.org/0000-0001-8869-9570)
- Leif G. Hanitsch (ORCID: https://orcid.org/0000-0002-8181-0093)
- Maaike de Bie
- Hanna IJspeert (ORCID: https://orcid.org/0000-0002-7061-5321)
- Jana Pachlopnik Schmid (ORCID: https://orcid.org/0000-0002-6653-9047)
- Machiel H. Jansen
- Ester M. M. van Leeuwen
- Catharina Schuetz (ORCID: https://orcid.org/0000-0001-8731-8924)
- Pieter L. A. Fraaij
- Susanne Ruß
- Anne-Kathleen Scholze
Institutions
- 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)
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
Funders
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
- Bundesministerium für Bildung und Forschung
- Else Kröner-Fresenius-Stiftung
- Universität Zürich
- Eva Luise und Horst Köhler Stiftung