{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,12]],"date-time":"2024-07-12T02:06:57Z","timestamp":1720750017753},"reference-count":39,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2010,4,12]],"date-time":"2010-04-12T00:00:00Z","timestamp":1271030400000},"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":[[2010,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In this work, we report the genetic basis of C7 deficiency in two different Spanish families. In family 1, by using exon\u2010specific polymerase chain reaction and sequencing, a recently described mutation was found in homozygosity in the patient; a single base change in exon 15 (C2107T) leading to a stop codon that causes truncation of the C\u2010terminal portion of C7 (Q681X). Patient\u2019s father, mother and sister were heterozygous for this mutation. Interestingly, patient\u2019s parents were not related. In family 2, a new single base mutation in exon 2 (G90A), leading to a stop codon that causes the premature truncation of C7 (W8X), was found in the patient, mother and sister 1. Additionally, patient 2, her father and sisters, displayed a missense mutation in exon 9 (G1135C) resulting in a change of aminoacid (G357R). Although sister 1 bore the same mutations in the C7 gene that patient 2, she remains asymptomatic. Because both mutations were found in the patient and her sister, we analyse other defence mechanisms such as Fc\u03b3R polymorphisms as well as mannose\u2010binding lectin alleles (<jats:italic>MBL2<\/jats:italic> gene) and MBL levels. Results showed that both siblings bore identical combinations of Fc\u03b3R allotypes and different <jats:italic>MBL<\/jats:italic>2 alleles, exhibiting patient 2 a MBL\u2010insufficient genotype. Normal MBL levels were found in patient 1 and in two previously studied C7\u2010deficient siblings, suggesting the involvement of other mechanisms of immunity distinct of Fc\u03b3R variants and the MBL pathway, for the absence of meningococcal recurrent infections in certain C7\u2010deficient individuals.<\/jats:p>","DOI":"10.1111\/j.1365-3083.2010.02403.x","type":"journal-article","created":{"date-parts":[[2010,4,12]],"date-time":"2010-04-12T09:46:10Z","timestamp":1271065570000},"page":"38-43","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["C7 Deficiency and Meningococcal Infection Susceptibility in Two Spanish Families"],"prefix":"10.1111","volume":"72","author":[{"given":"S.","family":"Barroso","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"L\u00f3pez\u2010Trascasa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Merino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. 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