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Article

Discordant phenotype caused by TREX1 variant in siblings with Aicardi-Goutières syndrome.

Pediatric rheumatology online journal - 5 Nov 2025

Liu Rou, Kretschmer Stefanie, Switala Paulina, Attia Mohamed, Lee-Kirsch Min Ae, Wolf Christine

Abstract excerpt

BACKGROUND: Autosomal recessive Aicardi-Goutières syndrome (AGS) and autosomal dominant familial chilblain lupus (FCL) are rare type I interferonopathies that can both result from loss-of-function variants in the TREX1 gene, which encodes a DNA exonuclease. Although phenotypic variability is well recognized in TREX1-related disorders, intrafamilial phenotypic discordance is seldom seen. CASE PRESENTATION: We...

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Identifiers

PMID: 41194156
DOI: 10.1186/s12969-025-01168-2
PMCID: PMC12590772

Genes

TREX1

Variants

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