IRF2BP2 deficiency: An important form of common variable immunodeficiency with inflammation.

doi:10.1016/j.jaci.2025.02.038

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Article

IRF2BP2 deficiency: An important form of common variable immunodeficiency with inflammation.

The Journal of allergy and clinical immunology - 1 Jun 2025

Udemgba Chioma, Pillay Bethany, Shafer Samantha, Alberstadt Angelika, Abers Michael, Gilliaux Olivier, Chen Karin, Rae William, Hanitsch Leif, Von Bernuth Horst, Neves Joao Farela, Raje Nikita, Moens Leen, van Hagen P Martin, Bergerson Jenna, Hartog Nicholas, Niehues Tim, Dückers Gregor, Falcone Emilia, Keller Michael, Hsu Amy, Meyts Isabelle, Holland Steven M

Abstract excerpt

BACKGROUND: IRF2BP2 is a transcription factor that plays an important role in regulating immune pathways, angiogenesis, apoptosis, and cell differentiation. Defects in this gene have been implicated in immunodeficiency. OBJECTIVES: To deepen the understanding of the clinical implications of IRF2BP2 variants, we sought to clinically characterize and functionally test 34 individuals with IRF2BP2 variants. METHODS:...

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PMID: 40090425
DOI: 10.1016/j.jaci.2025.02.038

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