{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T20:16:33Z","timestamp":1790626593677,"version":"4.1.0"},"reference-count":6,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,7,15]],"date-time":"2023-07-15T00:00:00Z","timestamp":1689379200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2023,7,15]],"date-time":"2023-07-15T00:00:00Z","timestamp":1689379200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J of Rheum Dis"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The clinical syndrome caused by cleavage\u2010resistant RIPK1 is known as CRIA (Cleavage\u2010resistant RIPK1\u2010induced autoinflammatory) syndrome. We present a family with three generations affected by CRIA syndrome. Our index patient (P1), a boy born of a non\u2010consanguineous marriage, developed recurrent episodes of fever after 5\u2009months of age, with variable periodicity. His father (P2) and paternal grandmother also had periodic fever. At 23\u2009months of age, P1 was diagnosed with renal biopsy\u2010proven steroid\u2010responsive nephrotic syndrome. His first visit to our center was at 2\u2009years of age. At presentation, he had failure to thrive, microcytic hypochromic anemia, and elevated inflammatory markers and interleukin\u20106 levels. Amyloid A protein was elevated, serum creatinine was normal, and proteinuria resolved after addition of steroids. Next\u2010generation sequencing showed heterozygous mutation (c.970G&gt;A, p.Asp324His) in\n                    <jats:italic>RIPK1<\/jats:italic>\n                    . This mutation has been reported to cause CRIA syndrome. P2 and P1's asymptomatic younger brother had the same mutation. All the affected members showed variability with respect to frequency and duration of periodic fever as well as the age of onset. Both P1 and P2 had elevated amyloid A, with no evidence of renal dysfunction. P1 and P2 showed improvement in the intensity of fever spikes with colchicine treatment; however, both continue to have periodic fever.\n                  <\/jats:p>","DOI":"10.1111\/1756-185x.14837","type":"journal-article","created":{"date-parts":[[2023,7,15]],"date-time":"2023-07-15T03:59:55Z","timestamp":1689393595000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Cleavage\u2010resistant\n                    <scp>RIPK1\u2010induced<\/scp>\n                    autoinflammatory syndrome\u2014A report of three generations with periodic fever and clinical response to colchicine"],"prefix":"10.1111","volume":"27","author":[{"given":"Akshaya","family":"Chougule","sequence":"first","affiliation":[{"name":"Department of Pediatric Immunology B. J. Wadia Hospital for Children  Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vaishnavi V.","family":"Iyengar","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology B. J. Wadia Hospital for Children  Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vijaya","family":"Gowri","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology B. J. Wadia Hospital for Children  Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prasad","family":"Taur","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology B. J. Wadia Hospital for Children  Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manisha R.","family":"Madkaikar","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology and Leukocyte Biology ICMR NIIH  Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minnie","family":"Bodhanwala","sequence":"additional","affiliation":[{"name":"Department of Paediatrics B. J. Wadia Hospital for Children  Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9253-7934","authenticated-orcid":false,"given":"Mukesh M.","family":"Desai","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology B. J. Wadia Hospital for Children  Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,7,15]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-019-1830-y"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2021.676946"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-019-1828-5"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12969-021-00588-0"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1813582116"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.2174\/1381612824666180116095658"}],"container-title":["International Journal of Rheumatic Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1756-185X.14837","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/1756-185X.14837","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1756-185X.14837","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T18:57:56Z","timestamp":1786561076000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1756-185X.14837"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,15]]},"references-count":6,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1111\/1756-185X.14837"],"URL":"https:\/\/doi.org\/10.1111\/1756-185x.14837","archive":["Portico"],"relation":{},"ISSN":["1756-1841","1756-185X"],"issn-type":[{"value":"1756-1841","type":"print"},{"value":"1756-185X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,15]]},"assertion":[{"value":"2022-12-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-02","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-15","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e14837"}}