dc.contributor.author | SİN, AYTÜL ZERRİN | |
dc.contributor.author | ÖZGÜL, SEMİHA | |
dc.contributor.author | KÖSE, TİMUR | |
dc.contributor.author | Gelincik, Asli | |
dc.contributor.author | Gokmen, Nihal Mete | |
dc.contributor.author | GÜLBAHAR, OKAN | |
dc.contributor.author | ONAY, HÜSEYİN | |
dc.contributor.author | Koc, Zeynep Peker | |
dc.contributor.author | Buyukozturk, Suna | |
dc.date.accessioned | 2021-03-04T17:51:48Z | |
dc.date.available | 2021-03-04T17:51:48Z | |
dc.date.issued | 2019 | |
dc.identifier.citation | Gokmen N. M. , GÜLBAHAR O., ONAY H., Koc Z. P. , ÖZGÜL S., KÖSE T., Gelincik A., Buyukozturk S., SİN A. Z. , "Deletions in SERPING1 Lead to Lower C1 Inhibitor Function: Lower C1 Inhibitor Function Can Predict Disease Severity", INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY, cilt.178, ss.50-59, 2019 | |
dc.identifier.issn | 1018-2438 | |
dc.identifier.other | av_87aac724-a239-47a9-b50c-a4f56333bdd0 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/92136 | |
dc.identifier.uri | https://doi.org/10.1159/000492583 | |
dc.description.abstract | Background: How genotype affects phenotype in hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) has not been totally clarified. In this study, we investigated the relationship between different types of mutations and various phenotypic characteristics. Methods: Clinical data from 81 patients from 47 families were recorded. Complement proteins were analyzed from 61 untreated patients. The coding exons and the exon-intron boundaries of the SERPING1 gene were sequenced, and deletion/duplication analysis with multiple ligation dependent probe amplification was performed. The relationship of complement protein with the mutation type was analyzed by using generalized estimating equations. Results: Thirty-five different mutations (15 novel and 2/15 homozygous) were identified. There was no causative mutation in 6 patients (7.4%). Patients with deletion and large deletion had the lowest (5.05%, 0-18.7; 5.8%, 0-16.5%, respectively), and the none mutation group had the highest C1 inhibitor function (23.3%, 11-78%, p < 0.001). C1 inhibitor function levels decreased as the age of the disease progressed (r = -0.352, p = 0.005). Lower C1 inhibitor function levels caused severer disease (r = -0.404, p = 0.001) and more frequent annual attacks (r = -0.289, p = 0.024). In the off-attack period, C1q levels were lower than normal in 9.8% of the patients. Conclusion: Deletion mutations may represent the most unfavorable effect on C1 inhibitor function. The earlier disease onset age could be a sign for lower C1 inhibitor function levels in adult life. C1q levels could also be low in C1-INH-HAE patients, as in acquired angioedema. Lower C1 inhibitor function can predict disease severity and may have negative impacts on the course of C1-INH-HAE. (c) 2018 S. Karger AG, Basel | |
dc.language.iso | eng | |
dc.subject | ALERJİ | |
dc.subject | Klinik Tıp | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | İmmünoloji | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | Tıp | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Temel Bilimler | |
dc.title | Deletions in SERPING1 Lead to Lower C1 Inhibitor Function: Lower C1 Inhibitor Function Can Predict Disease Severity | |
dc.type | Makale | |
dc.relation.journal | INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY | |
dc.contributor.department | Ege Üniversitesi , , | |
dc.identifier.volume | 178 | |
dc.identifier.issue | 1 | |
dc.identifier.startpage | 50 | |
dc.identifier.endpage | 59 | |
dc.contributor.firstauthorID | 260243 | |