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Article

C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome.

Frontiers in immunology - 1 Jan 2019

Gröbner Rebekka, Kapferer-Seebacher Ines, Amberger Albert, Redolfi Rita, Dalonneau Fabien, Björck Erik, Milnes Di, Bally Isabelle, Rossi Veronique, Thielens Nicole, Stoiber Heribert, Gaboriaud Christine, Zschocke Johannes

Abstract excerpt

Heterozygous missense or in-frame insertion/deletion mutations in complement 1 subunits C1r and C1s cause periodontal Ehlers-Danlos Syndrome (pEDS), a specific EDS subtype characterized by early severe periodontal destruction and connective tissue abnormalities like easy bruising, pretibial haemosiderotic plaques, and joint hypermobility. We report extensive functional studies of 16 C1R variants associated with...

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Identifiers

PMID: 31749804
DOI: 10.3389/fimmu.2019.02537
PMCID: PMC6848165

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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