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Article

Clinical heterogeneity of NLRP12-associated autoinflammatory diseases

26 May 2022

Abstract excerpt

Nod-like receptor family pyrin domain-containing protein 12 (NLRP12) is one of the critical pattern recognition receptors which participates in the regulation of multiple inflammatory responses. Mutations in NLRP12 cause exceptionally rare NLRP12-associated autoinflammatory disease (NLRP12-AID). So far, very few patients with NLRP12-AID have been identified worldwide; therefore, data on the clinical phenotype and...

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PMID: 37396539
DOI: 10.1016/j.gendis.2022.05.012

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