{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T07:24:36Z","timestamp":1767165876253,"version":"build-2238731810"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,6,26]],"date-time":"2015-06-26T00:00:00Z","timestamp":1435276800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Aust J Dermatology"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    This is a case of a 26\u2010year\u2010old Caucasian woman with a lifelong history of an episodic urticaria associated with arthralgia, precipitated by exposure to cold. She had no other significant past medical history. She reported several family members with a history of very similar episodic eruptions without definitive diagnoses. An examination showed an urticarial eruption over her limbs with no other systemic findings. A baseline full blood examination, serology and autoimmune screen were normal. A skin biopsy was consistent with urticaria, with dermal oedema and a perivascular infiltrate. Following genetic testing, she was found to be heterozygous for a mutation, p.\n                    <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>\n                    la439\n                    <jats:styled-content style=\"fixed-case\">V<\/jats:styled-content>\n                    al in the\n                    <jats:styled-content style=\"fixed-case\">\n                      <jats:italic>NLRP3<\/jats:italic>\n                    <\/jats:styled-content>\n                    gene, known to cause familial cold autoinflammatory syndrome (\n                    <jats:styled-content style=\"fixed-case\">FCAS<\/jats:styled-content>\n                    ), which typically presents with urticaria, conjunctivitis and arthralgia, as described in this patient.\n                    <jats:styled-content style=\"fixed-case\">FCAS<\/jats:styled-content>\n                    is one subtype of a group of conditions known as cryopyrin\u2010associated periodic syndromes (\n                    <jats:styled-content style=\"fixed-case\">CAPS<\/jats:styled-content>\n                    ).\n                    <jats:styled-content style=\"fixed-case\">CAPS<\/jats:styled-content>\n                    are rare, autosomal dominant inherited conditions with a spectrum of phenotypes, characterised by increased interleukin\u20101\u03b2 release with subsequent local and systemic proinflammatory and pyrogenic effects.\n                  <\/jats:p>","DOI":"10.1111\/ajd.12361","type":"journal-article","created":{"date-parts":[[2015,6,26]],"date-time":"2015-06-26T06:11:16Z","timestamp":1435299076000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["An unusual urticarial eruption: Familial cold autoinflammatory syndrome"],"prefix":"10.1111","volume":"57","author":[{"given":"Rebecca","family":"Nguyen","sequence":"first","affiliation":[{"name":"Royal Melbourne Hospital  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aaron","family":"Robinson","sequence":"additional","affiliation":[{"name":"Royal Melbourne Hospital  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katherine","family":"Nicholls","sequence":"additional","affiliation":[{"name":"Royal Melbourne Hospital  Melbourne Victoria Australia"},{"name":"Dorevitch Pathology  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George","family":"Varigos","sequence":"additional","affiliation":[{"name":"Royal Melbourne Hospital  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Con","family":"Dolianitis","sequence":"additional","affiliation":[{"name":"Royal Melbourne Hospital  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,6,26]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng756"},{"key":"e_1_2_5_3_1","unstructured":"HoffmanH.Familial cold autoinflammatory syndome created for Orphanet.November 2003; last updated February 2005. Available from URL:http:\/\/www.orpha.net\/data\/patho\/GB\/uk\u2010FCAS.pdf. 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