Genotype–phenotype correlations in pediatric CAPS with predominantly low-penetrance NLRP3 variants among Turkish patients in Germany and Turkey: beyond borders
Authors' conclusion
These findings suggest that Turkish-origin pediatric CAPS patients living in Turkey, including those with similar VUS/Q703K genotypes, may experience higher disease activity and greater treatment dependence than their German counterparts.
Study context
- Population
- Turkish-origin pediatric patients meeting CAPS criteria, centres in Germany and Turkey; median age at onset 1 year, at diagnosis 4 years
- Participants
- 51 patients
- Exposure
- Turkish-origin pediatric CAPS patients living in Turkey vs Germany
- Turkishn = 23
- Germann = 28reference
- Outcome
- Phenotypic and genotypic features (demographic, genetic, clinical, treatment data; disease activity by PGA and PPGA)
Methodological detailsmulticentre
- Multicentre
Main finding
As reported in the abstract
- Turkish cohort had more pathogenic mutations and more severe phenotypes; German cohort predominantly VUS/Q703K variants with mild phenotype
- Diagnostic delay and attack duration longer in Turkish cohort
- Urticarial rash, fatigue, thoracic pain, fever and aphthous ulcers more frequent in Turkish cohort; diarrhea, lymphadenopathy and infection-triggered attacks predominated in German cohort
- Baseline disease activity higher in Turkish cohort; most achieved remission at last visit under therapy (mainly above-standard doses of Canakinumab), whereas over half of German cohort reached remission without treatment
Observational data: associations, not effects.
Further findings
VUS/Q703K subgroup
- Turkish cohort: older age at diagnosis, longer diagnostic delay, more moderate phenotypes, higher baseline disease activity; German cohort: milder phenotypes, infection-triggered attacks, gastrointestinal involvement
- Turkish cohort received Canakinumab or Anakinra more frequently, often above-standard doses, frequently complete remission under therapy; German cohort more often remission without treatment
- Non-remission and partial remission observed exclusively in Turkish cohort
Original publication
Genotype–phenotype correlations in pediatric CAPS with predominantly low-penetrance NLRP3 variants among Turkish patients in Germany and Turkey: beyond borders. Pediatr Rheumatol Online J. Published 11 April 2026. doi:10.
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