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Genomic characterization of a patient with AGS and CdLS transcriptomic comparison of his monocytes against healthy and disease control samples

In this study, we describe an extreme genetic phenotype of two simultaneous genetic lesions, leading to broad alterations in immunophenotype and transcriptome. Whole Exome Sequencing and RNA-Sequencing of CD14+ monocytes was performed on the case patient, and RNA-sequencing was also performed on disease (Systemic Lupus Erythematosus) and healthy controls.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Publication

Publications	Citations
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). Boiu S, Paschalidis N, Sentis G, Manolakou T, Nezos A, Gialitakis M, Grigoriou M, Atsali E, Giorgi M, Ntinopoulos A, Mavragani C, Makrythanasis P, Boumpas DT, Banos A. Pediatr Rheumatol Online J 23: 2025 11	0

Publications

Citations

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).
Boiu S, Paschalidis N, Sentis G, Manolakou T, Nezos A, Gialitakis M, Grigoriou M, Atsali E, Giorgi M, Ntinopoulos A, Mavragani C, Makrythanasis P, Boumpas DT, Banos A. Pediatr Rheumatol Online J 23: 2025 11