High frequency of MEFV disease-causing variants in children with very-early-onset inflammatory bowel disease.

doi:10.1038/s41390-024-03242-z

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Article

High frequency of MEFV disease-causing variants in children with very-early-onset inflammatory bowel disease.

Pediatric research - 1 Jan 2025

Abu Shtaya Aasem, Orenstein Naama, Bazak Lily, Lidzbarsky Gabriel, Kalis Marina Lifshitc, Amarilyo Gil, Sofrin-Drucker Efrat, Jaron Ranit, Shahar Noa Ruhrman, Gilad Nesia Kropach, Basel-Salmon Lina

Abstract excerpt

BACKGROUND: Biological similarities between inflammatory bowel disease (IBD) and familial Mediterranean fever (FMF) have been described in humans and animal models suggesting a possible common genetic basis. FMF is caused by variants in the MEFV gene which encodes pyrin, an immune regulator. This study aimed to investigate the carrier rate of disease-causing MEFV variants in children of different ethnicities...

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Topics

Humans
Pyrin
Inflammatory Bowel Diseases
Female
Male
Child

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Child, Preschool

Gene Frequency

Familial Mediterranean Fever

Age of Onset

Genetic Predisposition to Disease

Exome Sequencing

Mutation

Infant

Heterozygote

Genetic Variation

Case-Control Studies

Phenotype

Source

Open in PubMed

Identifiers

PMID: 38734812
DOI: 10.1038/s41390-024-03242-z

Genes

MEFV
IMPACT

Provenance

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