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Article

Unique C1 inhibitor dysfunction in a kindred without angioedema. I. A mutant C1 INH that inhibits C1-s but not C1-r.

Journal of immunology (Baltimore, Md. : 1950) - 15 Mar 1994

Wisnieski J J, Knauss T C, Yike I, Dearborn D G, Narvy R L, Naff G B

Abstract excerpt

We have described hereditary incomplete deficiency of the fourth component of complement (C4) in 10 members of a large kindred. C4 deficiency in this kindred is not linked to C4 loci in the HLA region. C4 synthesis is decreased, and C4 catabolism is normal in kindred members with low serum C4 levels. We have discovered a uniquely dysfunctional C1 inhibitor in all C4-deficient members of this kindred. C1 inhibitor...

Topics

Angioedema
Complement C1 Inactivator Proteins
Complement C1r
Complement C1s
Complement C2
Complement C4
Edetic Acid
Egtazic Acid
Humans
Mutation
Trypsin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 8144914

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8144914-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Unique C1 inhibitor dysfunction in a kindred without angioedema. I. A mutant C1 INH that inhibits C1-s but not C1-r.PMID 8144914Read ↗

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