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Article

Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.

Annals of the rheumatic diseases - 1 Nov 2018

Carapito Raphael, Carapito Christine, Morlon Aurore, Paul Nicodème, Vaca Jacome Alvaro Sebastian, Alsaleh Ghada, Rolli Véronique, Tahar Ouria, Aouadi Ismail, Rompais Magali, Delalande François, Pichot Angélique, Georgel Philippe, Messer Laurent, Sibilia Jean, Cianferani Sarah, Van Dorsselaer Alain, Bahram Seiamak

Abstract excerpt

OBJECTIVES: The objective of the present study was to explain why two siblings carrying both the same homozygous pathogenic mutation for the autoinflammatory disease hyper IgD syndrome, show opposite phenotypes, that is, the first being asymptomatic, the second presenting all classical characteristics of the disease. METHODS: Where single omics (mainly exome) analysis fails to identify culprit genes/mutations in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Modifier

Share to Mevalonate Kinase Deficiency

Share to Mutation, Missense

Share to Polymorphism, Single Nucleotide

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Share to STAT1 Transcription Factor

Source

Open in PubMed Open full text

Identifiers

PMID: 30030262
DOI: 10.1136/annrheumdis-2018-213524
PMCID: PMC6225799

Genes

STAT1

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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