Rare variants in genes related to inborn errors of immunity in patients with rheumatoid arthritis and secondary immunodeficiency
Authors' conclusion
Although rare, underlying IEIs can account for immunodeficiency in patients with RA.
Study context
- Population
- Patients with rheumatoid arthritis (RA) screened for secondary immunodeficiency (SID) (persistent hypogammaglobulinaemia or susceptibility to infections requiring prophylactic anti-infective therapy)70 with SID sequenced
- Participants
- 701 patients
- Outcome
- Rare putatively pathogenic variants in IEI-associated genes in patients with RA and SID
Methodological detailsscreening, targeted whole-exome sequencing
- Screening
- Targeted whole-exome sequencing
Main finding
As reported in the abstract
Putatively pathogenic IEI-related variants in patients with SID
Patients with SID harbouring putatively pathogenic variants (17 variants)
15 of 70
21.4%
Variants affecting genes of canonical NF-κB signalling (all variants monoallelic)
7 of 17
41.2%
Patients with variants previously reported as pathogenic
Two patients (3.1%)
Observational data: associations, not effects.
Further findings
Prevalence of SID among patients with RA
- SID
- 70 (10%)
- SID more frequent with earlier RA onset, seronegative disease and rituximab therapy
Original publication
Rare variants in genes related to inborn errors of immunity in patients with rheumatoid arthritis and secondary immunodeficiency. RMD Open. Published 3 July 2026. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →