article_metadata: Sorina Boiu Nikolaos Paschalidis George Sentis Theodora Manolakou Andrianos Nezos Manolis Gialitakis Maria Grigoriou Erato Atsali Melpomeni Giorgi Argirios Ntinopoulos Clio Mavragani Periklis Makrythanasis Dimitrios T Boumpas Aggelos Banos
article_metadata: 10.1186/s12969-024-01050-7
article_metadata: Pediatr Rheumatol Online J
article_metadata: 2025 Jan 27;23(1):11.
article_metadata: aicardi-goutiéres syndrome cohesinopathy cornelia de lange syndrome dna damage response interferonopathy lupus
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39871364/
article_metadata: Autoimmune Diseases of the Nervous System / genetics Autoimmune Diseases of the Nervous System / immunology Cell Cycle Proteins / genetics DNA Damage / genetics De Lange Syndrome / genetics T-Lymphocytes / immunology
article_metadata: Autoimmune Diseases of the Nervous System / genetics Autoimmune Diseases of the Nervous System / immunology Cell Cycle Proteins / genetics DNA Damage / genetics De Lange Syndrome / genetics T-Lymphocytes / immunology Case Reports Chromosomal Proteins, Non-Histone / genetics Exome Sequencing Humans Interferon Type I Male Mutation Nervous System Malformations / genetics Nervous System Malformations / immunology SAM Domain and HD Domain-Containing Protein 1 / genetics Signal Transduction / genetics T-Cell Exhaustion Young Adult Cell Cycle Proteins Interferon Type I SAM Domain and HD Domain-Containing Protein 1 Chromosomal Proteins, Non-Histone SAMHD1 protein, human Aicardi-Goutieres syndrome
article_metadata: PMC11770959
article_metadata: 39871364
article_metadata: Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS)
article_metadata: 2025