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Article

Genetic variations in NLRP3 and NLRP12 genes in adult-onset patients with autoinflammatory diseases: a comparative study.

Frontiers in immunology - 1 Jan 2023

Yun Mark, Deng Zuoming, Navetta-Modrov Brianne, Xin Baozhong, Yang Jie, Nomani Hafsa, Aroniadis Olga, Gorevic Peter D, Yao Qingping

Abstract excerpt

Objectives: Cryopyrin-associated periodic syndrome or NLRP3-associated autoinflammatory disease (NLRP3-AID) and NLRP12-AID are both Mendelian disorders with autosomal dominant inheritance. Both diseases are rare, primarily reported in the pediatric population, and are thought to be phenotypically indistinguishable. We provide the largest cohort of adult-onset patients and compared these diseases and the gene...

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Identifiers

PMID: 38343435
DOI: 10.3389/fimmu.2023.1321370
PMCID: PMC10853347

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