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Article

Monogenic interferon-mediated diseases: novel phenotype and genotype characteristics from a Saudi population.

Clinical and experimental rheumatology - 1 Nov 2024

Al-Saleem AlHanouf, Alansari Shahad, Almuhaizea Mohammed, Al-Mayouf Sulaiman M

Abstract excerpt

OBJECTIVES: IFN-mediated diseases are mendelian innate immunodysregulatory disorders that present early in life with fevers, sterile organ inflammation, and a high type-I IFN-response gene signature in peripheral blood cells. To date, monumental discoveries of novel genetic variants with various phenotypic features have been recognised. We aimed to describe the genotype and phenotype findings in Saudi children...

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Identifiers

PMID: 38976295
DOI: 10.55563/clinexprheumatol/aa6drm

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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