C1 inhibitor deficiency in hereditary angioneurotic oedema

J. Kramer, K. Madalinski

Research output: Contribution to journalArticle

Abstract

Hereditary angioneurotic oedema (HAE) is an autosomal dominant disorder, due to the deficiency of C1-inhibitor, a 105-kd glycoprotein. The two biochemical and clinical forms of HAE are characterized by very low 5-30% of functionally active C1-inhibitor levels, if compared to healthy individuals. Fibroblasts from healthy persons and HAE patients synthesize C1-inhibitor in amount parallel to concentration in the sera: in type I HAE fibroblasts produce only 20%; while in type II HAE 100% of normal value. The C1-inhibitor synthesis can be increased by IFN-γ at pretranslational level. These-data were confirmed with cultures of fibroblasts from patients treated in the Child Health Center (up to 21-fold increase of C1-inhibitor synthesis). In several cases of type II HAE, the mutant, dysfunctional C1-inhibitor was released from the intracellular matrix of fibroblasts with a lower rate than normal. The secreted protein reacted with activated C1s. Studies of fibroblasts derived from a patient with deletion of exon VII allowed us to suggest a transinhibitory effect of the mutant gene product resulting in the lower than expected C1-inhibitor levels (50%) in the heterozygous persons.

Original languageEnglish
Pages (from-to)61-67
Number of pages7
JournalPolish Journal of Immunology
Volume19
Issue number1
Publication statusPublished - Jan 1 1994

ASJC Scopus subject areas

  • Immunology

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