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• W2895522878 abstract "<b><i>Background:</i></b> 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. <b><i>Methods:</i></b> 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 <i>SERPING1</i> 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. <b><i>Results:</i></b> 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%, <i>p</i> &#x3c; 0.001). C1 inhibitor function levels decreased as the age of the disease progressed (<i>r</i> = –0.352, <i>p</i> = 0.005). Lower C1 inhibitor function levels caused severer disease (<i>r</i> = –0.404, <i>p</i> = 0.001) and more frequent annual attacks (r = –0.289, <i>p</i> = 0.024). In the off-attack period, C1q levels were lower than normal in 9.8% of the patients. <b><i>Conclusion:</i></b> 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." @default.
• W2895522878 created "2018-10-12" @default.
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• W2895522878 date "2018-10-02" @default.
• W2895522878 modified "2023-09-26" @default.
• W2895522878 title "Deletions in <b><i>SERPING1</i></b> Lead to Lower C1 Inhibitor Function: Lower C1 Inhibitor Function Can Predict Disease Severity" @default.
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• W2895522878 doi "https://doi.org/10.1159/000492583" @default.
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