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Application of a dried blood spot based proteomic and genetic assay for diagnosing hereditary angioedema

1 Nov 2023

Abstract excerpt

BACKGROUND: Hereditary angioedema (HAE) with C1-inhibitor deficiency (C1-INH-HAE) is a rare disease caused by low level (type I) or dysfunction (type II) of the C1-inhibitor protein with subsequent reduction of certain complement protein levels. METHODS: To develop and test the reliability of a two-tier method based on C1-INH and C4 quantitation followed by genetic analysis from dried blood spot (DBS) for...

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PMID: 38006386
DOI: 10.1002/clt2.12317

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