Autoinflammatory & rare systemic diseases
Clinical manifestations, disease penetrance, and treatment in individuals with SOCS1 insufficiency: a registry-based and population-based study
An erratum to this article was published (Lancet Rheumatol, May 2025 ↗)
Authors' conclusion
SOCS1 insufficiency differs from other genetic autoimmune lymphoproliferative disorders by the presence of frequent atopic and rheumatological manifestations. Penetrance is incomplete and is higher in females than in males.
Study context
- Population
- Individuals with SOCS1 insufficiency, European Society for Immunodeficiencies (ESID) registry (nine European countries, China, Taiwan, USA) and UK Biobank
- Participants
- 119 individuals2 cohorts
- Exposure
- ESID registry vs UK Biobank
- ESID registryn = 67
- UK Biobankn = 52
- Outcome
- Clinical manifestations and penetrance
Methodological detailstwo independent cohorts (ESID registry and UK Biobank), descriptive statistics, ESID registry enrolment Feb 15, 2021, to Dec 31, 2023
- Two independent cohorts (ESID registry and UK Biobank)
- Descriptive statistics
- ESID registry enrolment Feb 15, 2021, to Dec 31, 2023
Main finding
As reported in the abstract
- ESID registry, symptomatic: allergy
- 33 [50%]
- ESID registry, symptomatic: inflammatory gastrointestinal
- 22 [36%]
- ESID registry, symptomatic: skin
- 18 [29%]
- ESID registry, symptomatic: autoimmune cytopenia
- 24 [39%]
- ESID registry, symptomatic: lymphoproliferation
- 23 [37%]
- ESID registry, symptomatic: rheumatological manifestations (SLE, Sjögren's disease, RA)
- 23 [37%]
- ESID registry, symptomatic: at least three different manifestations
- 42 (68%)
- UK Biobank symptomatic: female
- 21 [70%] of 30
Observational data: associations, not effects.
Further findings
- Response to JAKi treatment (ESID registry; physician VAS)
- 92% · 12
- Response to JAKi treatment (ESID registry; physician VAS): promising results in 12 of 13 participants
Original publication
Clinical manifestations, disease penetrance, and treatment in individuals with SOCS1 insufficiency: a registry-based and population-based study. Lancet Rheumatol. Published 27 February 2025. doi:10.
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