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)
A rare case of a patient bearing two genetic lesions (responsible for AGS/CdLS syndromes) exhibits distinctive features of genomic damage and interferon responses. Immune phenotype revealed granulocytic skewing and absence of activated T cells compatible with chronic antigenic stimulation and/or homing of these cells at sites of inflammation.
Authors
- George Sentis
- Argirios Ntinopoulos
- Manolis Gialitakis (ORCID: https://orcid.org/0000-0001-5922-1922)
- Clio P. Mavragani (ORCID: https://orcid.org/0000-0002-8214-7406)
- Aggelos Banos (ORCID: https://orcid.org/0000-0002-5647-6505)
- Dimitrios T. Boumpas (ORCID: https://orcid.org/0000-0002-9812-4671)
- Nikolaos Paschalidis (ORCID: https://orcid.org/0000-0001-6278-4144)
- Erato Atsali (ORCID: https://orcid.org/0000-0002-3704-0669)
- Melpomeni Giorgi
- S Boiu (ORCID: https://orcid.org/0000-0002-4393-3180)
- Theodora Manolakou (ORCID: https://orcid.org/0000-0001-5284-6655)
- Periklis Makrythanasis (ORCID: https://orcid.org/0000-0002-3725-0113)
- Maria Grigoriou (ORCID: https://orcid.org/0000-0001-5383-4138)
- Andrianos Nezos
Institutions
- University of Geneva (CH)
- University of Fribourg (CH)
- Inserm (FR)
- National and Kapodistrian University of Athens (GR)
- Academy of Athens (GR)
- Institut des Maladies Génétiques Imagine (FR)
Publication Details
- Journal
- Pediatric Rheumatology
- Published
- 2025-01-27
- DOI
- https://doi.org/10.1186/s12969-024-01050-7
- Citations
- 1
- Primary Topic
- interferon and immune responses
- Type
- article
- Field-Weighted Citation Impact
- 0.80
Funders
- European Commission
- European Regional Development Fund