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Article

First case of homozygous C1 inhibitor deficiency.

The Journal of allergy and clinical immunology - 1 Dec 2006

Blanch Alvaro, Roche Olga, Urrutia Ignacio, Gamboa Pedro, Fontán Gumersindo, López-Trascasa Margarita

Abstract excerpt

BACKGROUND: C1 Inhibitor (C1-Inh) deficiency causes angioedema and can be hereditary (HAE), caused by mutations in the C1-Inh gene (C1NH), or acquired (AAE). Patients with HAE show a complement profile different from that of patients with AAE with normal levels of C1 (C1q, C1r, and C1s). OBJECTIVE: We sought to characterize the complement profile of a patient with HAE and a mutation in homozygosis in the C1NH...

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PMID: 17137866
DOI: 10.1016/j.jaci.2006.07.035

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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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