{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T12:09:54Z","timestamp":1790251794804,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,3,16]],"date-time":"2012-03-16T00:00:00Z","timestamp":1331856000000},"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":["Scand J Immunol"],"published-print":{"date-parts":[[2012,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Properdin deficiency is a rare immunological disorder inherited as an X\u2010chromosomal recessive trait. Properdin deficiency poses a significant risk for severe meningococcal infections. About 20 mutations have been reported to underlie properdin deficiency. Here we report a large Finnish family with a novel mutation in the properdin gene (CFP). Based on the total absence of properdin activity in a 14\u2010year\u2010old male patient with an infection resembling meningococcal bacteraemia, the coding region and splice sites of the gene were sequenced. The mutation is located in exon 9 and changes guanine to adenine at nucleotide 1164 (c.1164G&gt;A) that causes tryptophan to change to a premature stop codon (W388X). The mother of the patient was shown to be a carrier of the mutation. In total, the mutation was identified in six females and three young males in the family. The mutation must be inherited from the grandfather who had died of an unknown infectious disease. This is the first mutation of the properdin gene identified in Finland.<\/jats:p>","DOI":"10.1111\/j.1365-3083.2012.02674.x","type":"journal-article","created":{"date-parts":[[2012,1,10]],"date-time":"2012-01-10T08:12:39Z","timestamp":1326183159000},"page":"445-448","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["A Novel Mutation W388X Underlying Properdin Deficiency in a Finnish Family"],"prefix":"10.1111","volume":"75","author":[{"given":"M.","family":"Helminen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Seitsonen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Jarva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Meri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I. E.","family":"J\u00e4rvel\u00e4","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,3,16]]},"reference":[{"key":"e_1_2_4_2_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200104053441406"},{"key":"e_1_2_4_3_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200104123441506"},{"key":"e_1_2_4_4_2","first-page":"291","article-title":"Properdin deficiency in a family with fulminant meningococcal infections","volume":"50","author":"Sj\u00f6holm AG","year":"1982","journal-title":"Clin Exp Immunol"},{"key":"e_1_2_4_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(88)90092-4"},{"key":"e_1_2_4_6_2","doi-asserted-by":"crossref","first-page":"3666","DOI":"10.4049\/jimmunol.157.8.3666","article-title":"Molecular characterization of properdin deficiency type III: dysfunction produced by a single point mutation in exon 9 of the structural gene causing a tyrosine to aspartic acid interchange","volume":"157","author":"Fredrikson GN","year":"1996","journal-title":"J Immunol"},{"key":"e_1_2_4_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0162-3109(97)00087-8"},{"key":"e_1_2_4_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-5890(99)00107-8"},{"key":"e_1_2_4_9_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2249.1999.01056.x"},{"key":"e_1_2_4_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200496"},{"key":"e_1_2_4_11_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.inf.0000209215.65445.04"},{"key":"e_1_2_4_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2009.02.008"},{"key":"e_1_2_4_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.molimm.2005.06.025"},{"key":"e_1_2_4_14_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2249.1999.01057.x"},{"key":"e_1_2_4_15_2","doi-asserted-by":"publisher","DOI":"10.1086\/345527"},{"key":"e_1_2_4_16_2","first-page":"72","article-title":"Updated Recommendations for Use of Meningococcal Conjugate Vaccines \u2013 Advisory Committee on Immunization Practices (ACIP), 2010","volume":"60","author":"CDC","year":"2011","journal-title":"MMWR Morb Mortal Wkly Rep"},{"key":"e_1_2_4_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.molimm.2005.02.017"},{"key":"e_1_2_4_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)91559-1"},{"key":"e_1_2_4_19_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.inf.0000256751.76218.7c"},{"key":"e_1_2_4_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.humimm.2009.01.022"}],"container-title":["Scandinavian Journal of Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-3083.2012.02674.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1365-3083.2012.02674.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T09:58:48Z","timestamp":1698659928000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1365-3083.2012.02674.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,3,16]]},"references-count":19,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,4]]}},"alternative-id":["10.1111\/j.1365-3083.2012.02674.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1365-3083.2012.02674.x","archive":["Portico"],"relation":{},"ISSN":["0300-9475","1365-3083"],"issn-type":[{"value":"0300-9475","type":"print"},{"value":"1365-3083","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,3,16]]},"assertion":[{"value":"2012-03-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}