ArticleArthritis research & therapy2011
NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment.
Article in Arthritis research & therapy, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 2 of them syntheses that pooled it.
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37 citing papers in PubMed, 2 syntheses or guidelines pooled it, 55 citations in OpenAlex.
- The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist.Arthritis & rheumatology (Hoboken, N.J.) · 2022Pooled it
- Pooled it
- Advances in understanding the NLRP3 inflammasome‑mediated mechanisms and therapeutic targets in diabetic nephropathy (Review).International journal of molecular medicine · 2026Review
- A case of cryopyrin-associated periodic syndrome presenting with abdominal symptoms due to a novel mutation NLRP3 p.Ile257Met.Clinical journal of gastroenterology · 2026Article
- NLRP3 Inflammasome Role and NLRP3 Inhibitors in Sensorineural Hearing Loss.Biomolecules · 2026Review
- NLRP3 inflammasome and hearing loss: from mechanisms to therapies.Journal of neuroinflammation · 2025Review
- Case Report: A heterozygous mutation of NLRP3 in a Chinese child with NLRP3-AID.Frontiers in pediatrics · 2025Article
- Case report: The altered rate of monocytic cell death in a patient of Muckle-Wells syndrome with atypical clinical course.Frontiers in pediatrics · 2023Article
- A unique presentation of NLRP3-associated autoinflammatory disease: case report.BMC rheumatology · 2022Article
- NLRP3 inflammasome and NLRP3-related autoinflammatory diseases: From cryopyrin function to targeted therapies.Frontiers in immunology · 2022Review
- The Added Value of a Multidisciplinary Clinic for Systemic Autoinflammatory Diseases.Journal of multidisciplinary healthcare · 2022Article
- Ocular manifestations in Chinese adult patients with NLRP3-associated autoinflammatory disease.Scientific reports · 2021Article
- Use of Anakinra in steroid dependent recurrent pericarditis: a case report and review of literature.Journal of community hospital internal medicine perspectives · 2021Article
- The PANoptosome: A Deadly Protein Complex Driving Pyroptosis, Apoptosis, and Necroptosis (PANoptosis).Frontiers in cellular and infection microbiology · 2020Review
- Roles of Inflammasomes in Inflammatory Kidney Diseases.Mediators of inflammation · 2019Review
- Muckle-Wells Syndrome Across Four Generations in One Czech Family: Natural Course of the Disease.Frontiers in immunology · 2019Article
- Living with autoinflammatory diseases: identifying unmet needs of children, adolescents and adults.Pediatric rheumatology online journal · 2018Article
- Cryopyrin-Associated Periodic Fever Syndrome and the Nervous System.Current treatment options in neurology · 2018Review
- Resolution of unilateral sensorineural hearing loss in a pediatric patient with a severe phenotype of Muckle-Wells syndrome treated with Anakinra: a case report and review of the literature.Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale · 2018Review
- Treatment of Inflammatory Diseases with IL-1 Blockade.Current otorhinolaryngology reports · 2018Article
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionMuckle-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.
methodsA 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.
resultsAll 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 hearing loss and severe fatigue. TNF-α, IL-6, TNF-RI, and TNF-RII levels as well as SAA were elevated in three, two, one, six and ten patients, respectively. Both clinical and laboratory parameters responded quickly and sustainedly to treatment with Anakinra or Canakinumab.
conclusionThe NLRP3 E311K mutation is associated with a heterogeneous clinical spectrum, which may expand the view on MWS presentation. The leading symptom was hearing loss. Pericarditis, a rare but severe clinical feature of MWS, was diagnosed in three patients. One patient had a severe course, which led to renal failure secondary to amyloidosis. IL-1 inhibition leads to rapid and sustained improvement of symptoms.
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