Post Tue Jan 28, 2025 7:00 pm

2025-Boiu et al-Pediatr Rheumatol Online J

"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)"
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
Pediatr Rheumatol Online J. 2025, 23, 11
https://doi.org/10.1186/s12969-024-01050-7

- no CyTOF dataset accession given