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)
干扰素 I 信号增强、DNA 损伤反应和 T 细胞衰竭迹象,该患者患有干扰素联合病(Aicardi-Goutières 综合征,AGS)和黏连蛋白病(Cornelia de Lange 综合征,CdLS)
期刊:Pediatric Rheumatology
影响因子:
doi:10.1186/s12969-024-01050-7
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 Banos3