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Article

Multigene sequencing reveals heterogeneity of NLRP12-related autoinflammatory disorders.

Rheumatology international - 1 May 2018

Kostik Mikhail M, Suspitsin Evgeny N, Guseva Marina N, Levina Anastasia S, Kazantseva Anastasia Y, Sokolenko Anna P, Imyanitov Evgeny N

Abstract excerpt

NLRP12-related autoinflammatory disease (NLRP12-AID) is an exceptionally rare autosomal dominant disorder caused by germline mutations in NLRP12 gene. Very few patients with NLRP12-AD have been identified worldwide; therefore, there is a scarcity of data on phenotypic presentation of this syndrome. Here we provide evidence that NLRP12-AID may have clinical manifestations characteristic for primary immune...

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Source

Identifiers

PMID: 29500522
DOI: 10.1007/s00296-018-4002-8

Genes

NLRP12

Provenance

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