ArticleMediterranean journal of hematology and infectious diseases2019
Novel Deleterious Sequence Change in the NLRP12 Gene in a Child with the Autoinflammatory Syndrome, Joint Hypermobility and Cutis Laxa from India.
Article in Mediterranean journal of hematology and infectious diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 15 citations in OpenAlex.
- Case Report: Familial Cold Autoinflammatory Syndrome With Double Variant inCase reports in medicine · 2026Article
- Review
- Autoinflammatory Recurrent Pericarditis Associated with a New NLRP12 Mutation in a Male Adolescent.Life (Basel, Switzerland) · 2023Article
- NLRP12-associated systemic autoinflammatory diseases in children.Pediatric rheumatology online journal · 2022Review
- Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience.Frontiers in immunology · 2021Article
- The clinical phenotype and genotype of NLRP12-autoinflammatory disease: a Chinese case series with literature review.World journal of pediatrics : WJP · 2020Review
- Dermatologic and Dermatopathologic Features of Monogenic Autoinflammatory Diseases.Frontiers in immunology · 2019Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
An otherwise healthy male child of 9 years presented with paroxysmal fever and diffuse abdominal pain along with the loss of appetite and nausea lasting for 3-4 days every 4-6 weeks in the last two years. He also has stretchable skin and hypermobile joints, inherited from his mother who never suffered any paroxysmal attack of the kind. Work up for acute intermittent porphyria, lead poisoning, and familial Mediterranean fever was negative. A novel harmful sequence change in the NLRP12 gene was detected, and a diagnosis of NLRP12 associated autoinflammatory syndrome was made. This sequence change within the NLRP12 gene causing disease has not yet been reported in the literature and is the first such a case reported from India.
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Registered trials
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