A rare case of an NLRP12-associated autoinflammatory disease

Pathogenic variants in nucleotide-binding oligomerization-like receptor protein 12 (NLRP12) have been recently suggested as possible causes of autoinflammatory syndromes and should be considered for the differential diagnosis in the patients presenting with symptoms of autoinflammatory diseases. Her...

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Bibliographic Details
Published inEuropean journal of medical genetics Vol. 64; no. 4; p. 104168
Main Authors Ayla, Ali Y., Eren, Hatice, Zare, Jale, Calhan, Sevgi S., Karacan, Ilker, Seven, Mehmet, Ugurlu, Serdal
Format Journal Article
LanguageEnglish
Published Netherlands Elsevier Masson SAS 01.04.2021
Subjects
Autoinflammatory diseases
Familial mediterranean fever
NLRP12
Polyarthritis
Autoinflammatory diseases
NLRP12
Polyarthritis
Familial mediterranean fever
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Summary:Pathogenic variants in nucleotide-binding oligomerization-like receptor protein 12 (NLRP12) have been recently suggested as possible causes of autoinflammatory syndromes and should be considered for the differential diagnosis in the patients presenting with symptoms of autoinflammatory diseases. Here we report a very rare case of NLRP12-associated autoinflammatory disease patient who initially presented with polyarthritis and was diagnosed as FMF. Later, the genetic analysis excluded many autoinflammatory conditions including FMF and revealed a c.1206C>G; p.(Phe402Leu) variant in the NLRP12 gene. Awareness of rare autoinflammatory conditions is important to have the best approach to the patients presenting with common symptoms of autoinflammatory diseases.
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ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2021.104168