Crossmark

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)

Crossref DOI link: https://doi.org/10.1186/s12969-024-01050-7

Published Online: 2025-01-27

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Boiu, Sorina

Paschalidis, Nikolaos

Sentis, George

Manolakou, Theodora

Nezos, Andrianos

Gialitakis, Manolis

Grigoriou, Maria

Atsali, Erato

Giorgi, Melpomeni

Ntinopoulos, Argirios

Mavragani, Clio

Makrythanasis, Periklis

Boumpas, Dimitrios T.

Banos, Aggelos https://orcid.org/0000-0002-5647-6505
License Information

Text and Data Mining valid from 2025-01-27

Version of Record valid from 2025-01-27
More Information

Article History

Received: 30 June 2024

Accepted: 10 December 2024

First Online: 27 January 2025

Declarations

:

: The experimental protocol was established, according to the ethical guidelines of the Helsinki Declaration and was approved by the Human Ethics Committee of Attikon University Hospital, (Athens, Greece, protocol 10|22-6-2017). Written informed consent was obtained from all participants or their guardians.

: Patients or guardian of patients gave informed consent for publishing the research results or images after anonymization.

: The authors have no competing interests to declare that are relevant to the content of this article. The authors have no relevant financial or non‑financial interests to disclose.

Document is current

Any future updates will be listed below