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Article

Rare genetic variants provide a mechanistic basis for immune imbalance in IgG4-related disease.

The Journal of clinical investigation - 15 Aug 2024

Ciavatta Dominic J

Abstract excerpt

Autoimmune diseases are commonly associated with a polygenic inheritance pattern. In rare instances, causal monogenic variants have been identified. The study by Liu et al. in this issue of the JCI provides an example of monogenic variants occurring in patients with IgG4-related disease (IgG4-RD). The authors investigated a familial cluster of IgG4-RD that consisted of an affected father and two daughters; the...

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Autoimmune Diseases
IKZF1 gene
Genetic Variation
Ikaros Transcription Factor
Immunoglobulin G

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Ubiquitin-Protein Ligases

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Identifiers

PMID: 39145453
DOI: 10.1172/JCI183396
PMCID: PMC11324286

Genes

IKZF1
UBR4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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