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Clinical Rheumatology

, Volume 38, Issue 2, pp 403–406 | Cite as

Detection of a novel mutation in NLRP3/CIAS1 gene in an Indian child with Neonatal-Onset Multisystem Inflammatory Disease (NOMID)

  • Sona B. Nair
  • Pallavi Pimpale Chavan
  • Arundhati S. Athalye
  • Ivona Aksentijevich
  • Raju P. KhubchandaniEmail author
Original Article
  • 74 Downloads

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.

Keywords

de novo mutation NLRP3/CIAS1 gene NOMID/CINCA Novel mutation 

Notes

Acknowledgements

The authors thank Jaslok Hospital and Research Centre for their laboratory support.

Compliance with ethical standards

Disclosure

None.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.

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Copyright information

© International League of Associations for Rheumatology (ILAR) 2018

Authors and Affiliations

  • Sona B. Nair
    • 1
  • Pallavi Pimpale Chavan
    • 2
  • Arundhati S. Athalye
    • 1
  • Ivona Aksentijevich
    • 3
  • Raju P. Khubchandani
    • 2
    Email author
  1. 1.Department of Assisted Reproduction and GeneticsJaslok Hospital and Research CentreMumbaiIndia
  2. 2.Department of Pediatric RheumatologyJaslok Hospital and Research CentreMumbaiIndia
  3. 3.Clinical Genetics ServiceNational Human Genome Research Institute DHHS/National Institutes of HealthBethesdaUSA

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