{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T05:23:06Z","timestamp":1770268986984,"version":"3.49.0"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,8,7]],"date-time":"2025-08-07T00:00:00Z","timestamp":1754524800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>NLR family pyrin domain containing 3 (NLRP3)\u2013associated autoinflammatory disease (NLRP3-AID), formerly known as cryopyrin-associated periodic syndrome, is a group of AIDs comprising neonatal-onset multisystem inflammatory disorder, Muckle\u2013Wells syndrome, and familial cold autoinflammatory syndrome. Mutations in the NLRP3 gene are considered central to its pathogenesis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case report<\/jats:title><jats:p>Here, we present a Chinese infant diagnosed with severe NLRP3-AID who carried a heterozygous variant in the NLRP3 gene. The patient exhibited recurrent episodes of fever, urticaria-like rashes, aseptic meningitis, and hearing loss. During hospitalization, elevated inflammatory markers and leukocytosis in body fluids were observed without evidence of infection. DNA sequencing identified a <jats:italic>de novo<\/jats:italic> heterozygous mutation, c.1006A\u2009&amp;gt;\u2009G (p.I336V), in the NLRP3 gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We report an infant with NLRP3-AID and emphasize the importance of early diagnosis based on clinical manifestations.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2025.1411603","type":"journal-article","created":{"date-parts":[[2025,8,7]],"date-time":"2025-08-07T16:07:55Z","timestamp":1754582875000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case Report: A heterozygous mutation of NLRP3 in a Chinese child with NLRP3-AID"],"prefix":"10.3389","volume":"13","author":[{"given":"Yangming","family":"Ruan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ting","family":"Ge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yizhong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ting","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feifei","family":"Song","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,8,7]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1007\/s00281-015-0491-7","article-title":"Caps\u2014pathogenesis, presentation and treatment of an autoinflammatory disease","volume":"37","author":"Kuemmerle-Deschner","year":"2015","journal-title":"Semin Immunopathol"},{"key":"B2","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1067\/mai.2001.118790","article-title":"Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever","volume":"108","author":"Hoffman","year":"2001","journal-title":"J Allergy Clin Immunol"},{"key":"B3","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1038\/ng1101-241","article-title":"A fever gene comes in from the cold","volume":"29","author":"Kastner","year":"2001","journal-title":"Nat Genet"},{"key":"B4","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1038\/ng756","article-title":"Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome","volume":"29","author":"Hoffman","year":"2001","journal-title":"Nat Genet"},{"key":"B5","doi-asserted-by":"publisher","first-page":"1254","DOI":"10.1016\/j.jaci.2019.11.035","article-title":"NLRP3-associated autoinflammatory diseases: phenotypic and molecular characteristics of germline versus somatic mutations","volume":"145","author":"Louvrier","year":"2020","journal-title":"J Allergy Clin Immunol"},{"key":"B6","doi-asserted-by":"publisher","first-page":"466","DOI":"10.1016\/j.ejpn.2019.03.006","article-title":"Spectrum of the neurologic manifestations in childhood-onset cryopyrin-associated periodic syndrome","volume":"23","author":"Kilic","year":"2019","journal-title":"Eur J Paediatr Neurol"},{"key":"B7","doi-asserted-by":"publisher","first-page":"214","DOI":"10.1186\/s13023-022-02364-z","article-title":"Clinical and genetic spectrum of 14 cases of NLRP3-associated autoinflammatory disease (NLRP3-aid) in China and a review of the literature","volume":"17","author":"Zhou","year":"2022","journal-title":"Orphanet J Rare Dis"},{"key":"B8","doi-asserted-by":"publisher","first-page":"797","DOI":"10.1016\/s0092-8674(00)80539-5","article-title":"Ancient missense mutations in a new member of the Roret gene family are likely to cause familial Mediterranean fever. 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