A rare case of an NLRP12-associated autoinflammatory disease.
Autoinflammatory diseases
Familial mediterranean fever
NLRP12
Polyarthritis
Journal
European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089
Informations de publication
Date de publication:
Apr 2021
Apr 2021
Historique:
received:
23
10
2020
revised:
05
01
2021
accepted:
16
02
2021
pubmed:
7
3
2021
medline:
6
7
2021
entrez:
6
3
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33676062
pii: S1769-7212(21)00034-3
doi: 10.1016/j.ejmg.2021.104168
pii:
doi:
Substances chimiques
Intracellular Signaling Peptides and Proteins
0
NLRP12 protein, human
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
104168Informations de copyright
Copyright © 2021 Elsevier Masson SAS. All rights reserved.