ArticleOpen access rheumatology : research and reviews2022
A 9-Year-Old Patient with Recurrent Fever, Urticarial Rash and Demyelinating Brain Lesions: NLRP3-Autoinflammatory Disease in Ecuador.
Article in Open access rheumatology : research and reviews, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Autoinflammatory diseases (AIDs) are a relatively new family disorders defined approximately 20 years ago. AIDs are caused by defect(s) or dysregulation of the innate immune system, characterized by recurrent or continuous inflammation and lack of a primary pathogenic role for the adaptive immune system. One AID, NLRP3-associated autoinflammatory disease (NLRP3-AID), involves a clinical presentation since the neonatal period or childhood, with multiple inflammatory recurrent symptoms that appear throughout the patient´s life. We present the first case of NLRP3-AID in Ecuador. The patient presented recurrent fever since 6 months of age associated with urticarial rash, arthralgias, and abdominal pain; recently, he had a seizure at 7 years of age. Brain MRI revealed demyelinating lesions, and genetic testing uncovered a de novo mutation in the NLRP3 gene. The patient had a good clinical response to treatment with canakinumab.
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