una, la Challenges in the diagnosis and management of NLRP3-associated autoinflammatory disease in Latin America: report of the first two families in Paraguay
Keywords:
NLR Family, Pyrin Domain-Containing 3 Protein, Latin America, Hereditary Autoinflammatory Diseases, Cryopyrin-Associated Periodic SyndromesAbstract
We present the first two Paraguayan families carrying NLRP3 inflammasome gain-of-function variants. One family exhibited a phenotype consistent with Muckle–Wells syndrome, including atypical neurological manifestations (West Syndrome), while the other showed predominantly cold-induced urticaria. These cases highlight the phenotypic variability of NLRP3-associated autoinflammatory diseases and underscore the importance of increasing awareness, improving access to genetic testing, and expanding availability of targeted therapies in Paraguay.
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