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Article

Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: functional and structural correlates.

Molecular immunology - 1 Aug 2008

Pappalardo Emanuela, Caccia Sonia, Suffritti Chiara, Tordai Attila, Zingale Lorenza Chiara, Cicardi Marco

Abstract excerpt

Hereditary angioedema (HAE) is an autosomal dominant disorder characterized by the deficiency of the inhibitor of the first component of complement system (C1-INH), which is due to mutations in its structural gene. There are two phenotypic variants: HAE type I, with reduced plasma antigen levels and HAE type II with normal antigen levels and reduced functional C1 inhibitor activity. The aim of this study was to...

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Identifiers

PMID: 18586324
DOI: 10.1016/j.molimm.2008.05.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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