Autoinflammatory & rare systemic diseases
Association of IgG4-related disease with human inborn errors of immunity
Authors' conclusion
Patients with IgG4-RD carry an increased frequency of ultra-rare germline variants in HIEI genes.
Study context
- Population
- Patients with igG4-related disease (IgG4-RD) and age-sex matched healthy individuals
- Participants
- 18 vs 50
- Comparison
- IgG4-RD patients vs age-sex matched healthy controls
- IgG4-RDn = 18
- Controlsn = 50reference
- Outcome
- Germline rare and ultra-rare variants in HIEI genes with potential impact on protein structure
Methodological detailswhole exome sequencing, age-sex matched controls
- Whole exome sequencing
- Age-sex matched controls
Main finding
As reported in the abstract
Germline ultra-rare variants in HIEI genes
- Up to 10 rare gene variants observed in a single patient
- Most frequently mutated genes: PRKDC and LRBA
- All variants heterozygous, of uncertain significance and not per se causative of a reported monogenic disorder
- Incomplete phenotype of monogenic diseases associated with human inborn errors of immunity (HIEI) in some patients
- Variants unique to IgG4-RD patients; not observed in controls
- IgG4-RD vs Controls: P = 0.0025
Observational data: associations, not effects.
Original publication
Association of IgG4-related disease with human inborn errors of immunity. Rheumatology (Oxford). Published 26 June 2025. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →