1 results match your criteria: "Haematology Semmelweis University[Affiliation]"
Application of a dried blood spot based proteomic and genetic assay for diagnosing hereditary angioedema.
Clin Transl Allergy
November 2023
Department of Internal Medicine, Hungarian Angioedema Center of Reference and Excellence, Haematology Semmelweis University, Budapest, Hungary.
Article Synopsis
- Hereditary angioedema (HAE) with C1-inhibitor deficiency is a rare genetic condition resulting from low levels or dysfunctional forms of the C1-inhibitor protein, causing issues with certain complement proteins.
- A new two-tier diagnostic method involving the measurement of C1-INH and C4 proteins in dried blood spots (DBS) was developed, followed by genetic analysis to confirm the presence of mutations associated with HAE.
- Results indicated that DBS testing could reliably identify C1-INH and C4 levels similar to plasma tests and successfully confirmed known mutations while also finding new genetic variations that may contribute to HAE symptoms.