Understanding the Mechanism of the Disproportionately Reduced C1-Esterase Inhibitor (C1-INH) Levels in Hereditary Angioedema (HAE)
Journal of Allergy and Clinical Immunology(2023)
摘要
HAE is an autosomal dominant disorder caused by defects in the SERPING1 gene. HAE patients maintain one functional wild-type SERPING1 allele, therefore at least 50% of the normal C1-INH value is expected. However, serum antigen levels of C1-INH in HAE patients are usually 5-30% of normal. We hypothesize that the type of SERPING1 mutations and their impact on C1-INH protein structure and function lead to the variable degrees of C1-INH level in HAE patients.
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关键词
hereditary angioedema,inhibitor
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