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Article

Intermittent C1-Inhibitor Deficiency Associated with Recessive Inheritance: Functional and Structural Insight.

Scientific reports - 17 Jan 2018

Caccia Sonia, Suffritti Chiara, Carzaniga Thomas, Berardelli Romina, Berra Silvia, Martorana Vincenzo, Fra Annamaria, Drouet Christian, Cicardi Marco

Abstract excerpt

C1-inhibitor is a serine protease inhibitor (serpin) controlling complement and contact system activation. Gene mutations result in reduced C1-inhibitor functional plasma level causing hereditary angioedema, a life-threatening disorder. Despite a stable defect, the clinical expression of hereditary angioedema is unpredictable, and the molecular mechanism underlying this variability remains undisclosed. Here we...

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Identifiers

PMID: 29343682
DOI: 10.1038/s41598-017-16667-w
PMCID: PMC5772639

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

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Intermittent C1-Inhibitor Deficiency Associated with Recessive Inheritance: Functional and Structural Insight.PMID 29343682Read ↗

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