原创力文档nlrp3 e311k mutation in a large family with muckle-wells syndrome - description of a heterogeneous phenotype and response to treatmentnlrp3 e311k突变一个大家庭muckle-wells综合症u2014u2014异构表型的描述和对治疗的反应.pdfVIP
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nlrp3 e311k mutation in a large family with muckle-wells syndrome - description of a heterogeneous phenotype and response to treatmentnlrp3 e311k突变一个大家庭muckle-wells综合症u2014u2014异构表型的描述和对治疗的反应
Kuemmerle-Deschner et al. Arthritis Research Therapy 2011, 13:R196
/content/13/6/R196
RESEARCH ARTICLE Open Access
NLRP3 E311K mutation in a large family with
Muckle-Wells syndrome - description of a
heterogeneous phenotype and response to
treatment
1* 2 3 4 4
Jasmin B Kuemmerle-Deschner , Peter Lohse , Ina Koetter , Guenther E Dannecker , Fabian Reess ,
1 3 5 1 6
Katharina Ummenhofer , Silvia Koch , Nikolay Tzaribachev , Anja Bialkowski and Susanne M Benseler
Abstract
Introduction: Muckle-Wells syndrome (MWS) is an inherited autoinflammatory disease characterized by fever, rash,
arthralgia, conjunctivitis, sensorineural deafness and potentially life-threatening amyloidosis. The NLRP3/CIAS1 E311K
mutation caused a heterogeneous phenotype of MWS in a large family. This study analyzes the clinical spectrum,
patterns of inflammatory parameters and reports on response to treatment.
Methods: A total of 42 patients and family members were screened for the presence of the NLRP3 mutation.
Clinical symptoms were reviewed in all family members. Classical (erythrocyte sedimentation rate (ESR, C-reactive
protein (CRP)) and novel MWS inflammatory markers (serum amyloid A (SAA), cytokines, cytokine receptor levels)
were determined. Patients were treated with the IL-1 inhibitors Anakinra or Canakinumab.
Results: All 13 clinically affected patients were heterozygous carriers of the amino acid substitution p.Glu311Lys/
E311K encoded by exon 3 of the NLRP3 gene, but none of the healthy family members. Disease manifestations
varied widely. Except for one child, all carriers suffered from h
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