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Article

Autoinflammatory disease with corneal and mucosal dyskeratosis caused by a novel NLRP1 variant.

Rheumatology (Oxford, England) - 1 Sept 2020

Herlin Troels, Jørgensen Sofie E, Høst Christian, Mitchell Patrick S, Christensen Maria Hønholt, Laustsen Mira, Larsen Dorthe A, Schmidt Florian I, Christiansen Mette, Mogensen Trine H

Abstract excerpt

OBJECTIVES: Here we investigated a patient with inflammatory corneal intraepithelial dyskeratosis, mucosal inflammation, tooth abnormalities and, eczema to uncover the genetic and immunological basis of the disease. METHODS: On suspicion of an autoinflammatory condition, Sanger sequencing of nucleotide-binding oligomerization domain-like, leucine-rich repeat pyrin domain containing 1 (NLRP1) was performed and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 31873740
DOI: 10.1093/rheumatology/kez612

Provenance

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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