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A 9-Year-Old Patient with Recurrent Fever, Urticarial Rash and Demyelinating Brain Lesions: NLRP3-Autoinflammatory Disease in Ecuador
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 sy...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8785128/ https://www.ncbi.nlm.nih.gov/pubmed/35082538 http://dx.doi.org/10.2147/OARRR.S333562 |
Sumario: | 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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