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Article

An inherited mutation in NLRC4 causes autoinflammation in human and mice.

The Journal of experimental medicine - 17 Nov 2014

Kitamura Akiko, Sasaki Yuki, Abe Takaya, Kano Hirotsugu, Yasutomo Koji

Abstract excerpt

Autoinflammatory syndromes cause sterile inflammation in the absence of any signs of autoimmune responses. Familial cold autoinflammatory syndrome (FCAS) is characterized by intermittent episodes of rash, arthralgia, and fever after exposure to cold stimuli. We have identified a missense mutation in the NLRC4 gene in patients with FCAS. NLRC4 has been known as a crucial sensor for several Gram-negative...

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Identifiers

PMID: 25385754
DOI: 10.1084/jem.20141091
PMCID: PMC4235634

Genes

NLRC4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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