{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T19:07:04Z","timestamp":1791400024434,"version":"4.3.3"},"reference-count":32,"publisher":"Rockefeller University Press","issue":"12","content-domain":{"domain":["rupress.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2014,11,17]]},"abstract":"<jats:p>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 intracellular bacteria. The mutation in NLRC4 in FCAS patients promoted the formation of NLRC4-containing inflammasomes that cleave procaspase-1 and increase production of IL-1\u03b2. Transgenic mice that expressed mutant Nlrc4 under the invariant chain promoter developed dermatitis and arthritis. Inflammation within tissues depended on IL-1\u03b2\u2013mediated production of IL-17A from neutrophils but not from T cells. Our findings reveal a previously unrecognized link between NLRC4 and a hereditary autoinflammatory disease and highlight the importance of NLRC4 not only in the innate immune response to bacterial infections but also in the genesis of inflammatory diseases.<\/jats:p>","DOI":"10.1084\/jem.20141091","type":"journal-article","created":{"date-parts":[[2014,11,11]],"date-time":"2014-11-11T00:04:12Z","timestamp":1415664252000},"page":"2385-2396","update-policy":"https:\/\/doi.org\/10.1084\/jem.crossmarkpolicy","source":"Crossref","is-referenced-by-count":273,"title":["An inherited mutation in\n                    <i>NLRC4<\/i>\n                    causes autoinflammation in human and mice"],"prefix":"10.1084","volume":"211","author":[{"given":"Akiko","family":"Kitamura","sequence":"first","affiliation":[{"name":"Department of Immunology and Parasitology, Graduate School of Medicine, Tokushima University, Tokushima 770-8503, Japan 1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Sasaki","sequence":"additional","affiliation":[{"name":"Department of Immunology and Parasitology, Graduate School of Medicine, Tokushima University, Tokushima 770-8503, Japan 1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takaya","family":"Abe","sequence":"additional","affiliation":[{"name":"Laboratory for Animal Resources and Genetic Engineering, RIKEN Center for Developmental Biology, Chuou-ku, Kobe 650-0047, Japan 2"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirotsugu","family":"Kano","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Teikyo University Mizonokuchi Hospital, Kawasaki, Kanagawa 213-8507, Japan 3"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koji","family":"Yasutomo","sequence":"additional","affiliation":[{"name":"Department of Immunology and Parasitology, Graduate School of Medicine, Tokushima University, Tokushima 770-8503, Japan 1"},{"name":"JST, CREST, Tokyo 102-0076, Japan 4"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"291","published-online":{"date-parts":[[2014,11,10]]},"reference":[{"key":"2023072602000165400_bib1","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1038\/ng786","article-title":"Merlin\u2014rapid analysis of dense genetic maps using sparse gene flow trees","volume":"30","author":"Abecasis","year":"2002","journal-title":"Nat. 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