{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T02:49:07Z","timestamp":1790995747225,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2015,5,22]],"date-time":"2015-05-22T00:00:00Z","timestamp":1432252800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Allergy"],"published-print":{"date-parts":[[2015,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Hereditary angioedema with normal C1\u2010<jats:styled-content style=\"fixed-case\">INH<\/jats:styled-content> may be linked to specific mutations in the coagulation <jats:italic>factor 12<\/jats:italic> (<jats:styled-content style=\"fixed-case\">FXII<\/jats:styled-content>) gene (<jats:styled-content style=\"fixed-case\">HAE<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">FXII<\/jats:styled-content>) or mutations in genes that are still unknown (<jats:styled-content style=\"fixed-case\">HAE<\/jats:styled-content>\u2010unknown). To assess the differences in transmission and inheritance, clinical features, and laboratory parameters between patients with <jats:styled-content style=\"fixed-case\">HAE<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">FXII<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">HAE<\/jats:styled-content>\u2010unknown.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Sixty\u2010nine patients with <jats:styled-content style=\"fixed-case\">HAE<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">FXII<\/jats:styled-content> from 23 unrelated families and 196 patients with <jats:styled-content style=\"fixed-case\">HAE<\/jats:styled-content>\u2010unknown from 65 unrelated families were studied.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Both <jats:styled-content style=\"fixed-case\">HAE<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">FXII<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">HAE<\/jats:styled-content>\u2010unknown are inherited as autosomal\u2010dominant traits with incomplete penetrance. The male to female ratio was 1\u00a0:\u00a068 in <jats:styled-content style=\"fixed-case\">HAE<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">FXII<\/jats:styled-content> and 1\u00a0:\u00a06.3 in <jats:styled-content style=\"fixed-case\">HAE<\/jats:styled-content>\u2010unknown. The maternal to paternal transmission ratio was 35\u00a0:\u00a014 for <jats:styled-content style=\"fixed-case\">HAE<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">FXII<\/jats:styled-content> and 109\u00a0:\u00a012 for <jats:styled-content style=\"fixed-case\">HAE<\/jats:styled-content>\u2010unknown. Mean age at onset of clinical symptoms was 20.3\u00a0years in patients with <jats:styled-content style=\"fixed-case\">HAE<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">FXII<\/jats:styled-content> and 29.6\u00a0years in patients with <jats:styled-content style=\"fixed-case\">HAE<\/jats:styled-content>\u2010unknown. The incidence of asphyxiation due to angioedema was similar for <jats:styled-content style=\"fixed-case\">HAE<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">FXII<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">HAE<\/jats:styled-content>\u2010unknown. Oral contraceptives and pregnancies had a significantly higher impact on <jats:styled-content style=\"fixed-case\">HAE<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">FXII<\/jats:styled-content> than on <jats:styled-content style=\"fixed-case\">HAE<\/jats:styled-content>\u2010unknown. Slightly decreased C1\u2010<jats:styled-content style=\"fixed-case\">INH<\/jats:styled-content> activity and C4 concentration were observed in more patients with <jats:styled-content style=\"fixed-case\">HAE<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">FXII<\/jats:styled-content> than <jats:styled-content style=\"fixed-case\">HAE<\/jats:styled-content>\u2010unknown. Tests for <jats:styled-content style=\"fixed-case\">FXI<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">FXII<\/jats:styled-content> activity, plasminogen activator inhibitor 1, and activated partial thromboplastin time showed variability but no significant differences between the groups. No abnormalities were found for C1\u2010<jats:styled-content style=\"fixed-case\">INH<\/jats:styled-content> protein, C1q, alpha2\u2010macroglobulin, antithrombin <jats:styled-content style=\"fixed-case\">III<\/jats:styled-content>, and angiotensin\u2010converting enzyme. In families with <jats:styled-content style=\"fixed-case\">HAE<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">FXII<\/jats:styled-content>, the number of female offspring with <jats:italic>F12<\/jats:italic> mutations was significantly increased and that of male offspring was significantly decreased.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">HAE<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">FXII<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">HAE<\/jats:styled-content>\u2010unknown differ in various respects, including gender distribution, genetics, symptoms, and estrogen impact.<\/jats:p><\/jats:sec>","DOI":"10.1111\/all.12648","type":"journal-article","created":{"date-parts":[[2015,5,7]],"date-time":"2015-05-07T15:40:15Z","timestamp":1431013215000},"page":"1004-1012","source":"Crossref","is-referenced-by-count":121,"title":["Hereditary angioedema with normal C1\u2010<scp>INH<\/scp> with <i>versus<\/i> without specific <i>F12<\/i> gene mutations"],"prefix":"10.1111","volume":"70","author":[{"given":"K.","family":"Bork","sequence":"first","affiliation":[{"name":"Department of Dermatology Johannes Gutenberg University Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Wulff","sequence":"additional","affiliation":[{"name":"University Medicine Ernst Moritz Arndt University Greifswald Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Witzke","sequence":"additional","affiliation":[{"name":"Department of Dermatology Johannes Gutenberg University Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Hardt","sequence":"additional","affiliation":[{"name":"Department of Medical Psychology and Medical Sociology Johannes Gutenberg University Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,5,22]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.iac.2013.09.004"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.anai.2013.12.023"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-800100-4.00002-7"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)02483-1"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2011.07.002"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2013.08.001"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/hae.12519"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2006.03.092"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2009.03.038"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.2500\/aap.2012.33.3627"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.iac.2013.07.002"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaip.2013.06.004"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjmed.2013.05.017"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000138883"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0233-x"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjmed.2005.09.064"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2012.05.055"},{"key":"e_1_2_9_19_1","first-page":"3208","article-title":"Misfolded proteins activate factor XII in humans, leading to kallikrein formation without initiating coagulation","volume":"118","author":"Maas C","year":"2008","journal-title":"J Clin Invest"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.136.11.5076"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/0167-4781(92)90069-C"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/0039-128X(96)00037-2"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bjp.0701255"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2011.11.025"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9343(02)01526-7"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1398-9995.2010.02368.x"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1067\/mai.2000.108106"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.anai.2012.05.022"},{"key":"e_1_2_9_29_1","first-page":"1271","article-title":"Reduced PAI\u20101 in patients with angioedema (AE) due to C1 inhibitor deficiency","volume":"65","author":"Bork KBK","year":"1991","journal-title":"Thromb Haemost"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1097\/MBC.0b013e3282dded21"}],"container-title":["Allergy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fall.12648","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/all.12648","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T00:36:33Z","timestamp":1696466193000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/all.12648"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,5,22]]},"references-count":29,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2015,8]]}},"alternative-id":["10.1111\/all.12648"],"URL":"https:\/\/doi.org\/10.1111\/all.12648","archive":["Portico"],"relation":{},"ISSN":["0105-4538","1398-9995"],"issn-type":[{"value":"0105-4538","type":"print"},{"value":"1398-9995","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,5,22]]}}}