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RESEARCH PRODUCT
Significance of I313V mutation of NLPR3 gene in two pediatric patients
Sonia CartaAnna RubartelliR AntonaRomina GallizziA OmenettiM AlessioMartina FinettiM GattornoAlberto Martinisubject
medicine.medical_specialtyMutationlcsh:Diseases of the musculoskeletal systembusiness.industryAcute-phase proteinlcsh:RJ1-570lcsh:Pediatricsmedicine.disease_causePhenotypeRheumatologyEndocrinologyRheumatologyUrticarial rashInternal medicineOn demandPoster PresentationPediatrics Perinatology and Child HealthmedicineImmunology and AllergySecretionPediatrics Perinatology and Child Healthlcsh:RC925-935businessGenedescription
Results Both case #1 (M.T) and #2 (V.C) displayed a mild clinical phenotype (episodes of urticarial rash and arthralgia associated with elevation of acute phase reactants), compatible with FCAS and Muckle-Wells syndrome, respectively. Both patients displayed good response to NSAID and/or steroid on demand. Compared to HD controls, patients displayed enhanced and delayed IL1b secretion. This was accompanied by higher levels of lL1Ra and IL-6 without any significant differences in IL-8. Interestingly, parents carrying the mutation also displayed higher levels of secreted IL-1b compared to HD control group. Conclusion The I313V mutation is associated with a mild CAPS phenotype and with an increased IL-1b secretion.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2011-09-01 | Pediatric Rheumatology |