ArticleClinical rheumatology2019
Detection of a novel mutation in NLRP3/CIAS1 gene in an Indian child with Neonatal-Onset Multisystem Inflammatory Disease (NOMID).
Article in Clinical rheumatology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- Mechanisms of NLRP3 activation and inhibition elucidated by functional analysis of disease-associated variants.Nature immunology · 2025Article
- Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience.Frontiers in immunology · 2021Article
- Dihydrotanshinone I Specifically Inhibits NLRP3 Inflammasome Activation and Protects Against Septic ShockFrontiers in pharmacology · 2021Article
- Computational Modeling of NLRP3 Identifies Enhanced ATP Binding and Multimerization in Cryopyrin-Associated Periodic Syndromes.Frontiers in immunology · 2020Article
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
Neonatal-Onset Multisystem Inflammatory Disease (NOMID) or Chronic Infantile Neurologic Cutaneous Articular (CINCA) syndrome is a monogenic autoinflammatory disorder characterized by urticarial skin rash, fever, chronic meningitis and joint manifestations. Here we report a case of an Indian male child who presented at the age of 9 months with fever, respiratory distress, urticarial skin rash, arthritis, and neuroregression. Suspecting NOMID/CINCA syndrome, the child's blood was sent to the Jaslok Hospital and Research Centre for mutation analysis of the CIAS1/NLRP3 gene. The DNA was screened for mutations in exon 3 of CIAS1/NLRP3 gene by automated Sanger sequencing. DNA sequencing showed a novel heterozygous c.1813A➔G, p.R605G mutation in exon 3 of CIAS1/NLRP3 gene (ref no NM_001243133.1). His parents tested negative for this mutation. We therefore identified a novel de novo mutation in this family in the CIAS1/NLRP3 gene responsible for the child's clinical features.
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Registered trials
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