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Novel mutation and expanding phenotype in IRF2BP2 deficiency.

Rheumatology (Oxford, England) - 3 Apr 2023

Körholz Julia, Gabrielyan Anastasia, Sczakiel Henrike Lisa, Schulze Livia, Rejzek Manuela, Laass Martin W, Leuchten Nicolai, Tiebel Oliver, Aust Diana, Conrad Karsten, Röber Nadja, Jacobsen Eva-Maria, Ehmke Nadja, Berner Reinhard, Lucas Nadja, Lee-Kirsch Minae A, Wiedemuth Ralf, Roesler Joachim, Roers Axel, Amendt Timm, Schuetz Catharina

Abstract excerpt

OBJECTIVES: Inborn errors of immunity manifest with susceptibility to infection but may also present with immune dysregulation only. According to the European Society for Immunodeficiencies Registry about 50% of inborn errors of immunity are classified as common variable immunodeficiencies (CVID). In only few CVID patients are monogenic causes identified. IFN regulatory factor-2 binding protein 2 (IRF2BP2) is one...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 36193988
DOI: 10.1093/rheumatology/keac575

Genes

CD4
CTLA4
FOXP3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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