Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutieres Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS).

ABSTRACT:

Background

Type I interferonopathies including Aicardi-Goutiéres Syndrome (AGS) represent a heterogeneous group of clinical phenotypes. Herein, we present a Case with combined AGS and Cornelia de Lange Syndrome (CdLS)-a cohesinopathy-with comprehensive analysis of the immune and genomic abnormalities.

Case and methods

A 20-year old man presented with chilblain lesions and resorption of distal phalanges of fingers and toes, somatic and psychomotor retardation, microcephaly, synophrys, hearing losing and other aberrancies consistent with the phenotype of CdLS. We used whole exome sequencing to genetically map the associated mutations and performed transcriptome profiling and enrichment analysis in CD14⁺ monocytes of the patient and immune phenotyping by mass cytomet

SUBMITTER: Boiu S 

PROVIDER: S-EPMC11770959 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature