Evidence map›Paper›PMID 39871364›Full record

ArticlePediatric rheumatology online journal2025

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 and 4 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Pediatric rheumatology online journal, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Iterative genetic testing identifiesJournal of human immunity · 2026
    Article
  2. Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Sorina BoiuThird Department of Pediatrics, Pediatric Rheumatology Unit, National and Kapodistrian University of Athens, 'Attikon' General University Hospital, Athens, Greece.
Nikolaos PaschalidisBiomedical Research Foundation, Academy of Athens, Athens, Greece.
George SentisLaboratory of Autoimmunity and Inflammation, Center for Clinical, Biomedical Research Foundation, Experimental Surgery and Translational Research, Academy of Athens, Athens, Greece.
Theodora ManolakouLaboratory of Autoimmunity and Inflammation, Center for Clinical, Biomedical Research Foundation, Experimental Surgery and Translational Research, Academy of Athens, Athens, Greece.
Andrianos NezosDepartment of Physiology, National and Kapodistrian University of Athens Medical School, Athens, Greece.
Manolis GialitakisLaboratory of Autoimmunity and Inflammation, Center for Clinical, Biomedical Research Foundation, Experimental Surgery and Translational Research, Academy of Athens, Athens, Greece.
Maria GrigoriouLaboratory of Autoimmunity and Inflammation, Center for Clinical, Biomedical Research Foundation, Experimental Surgery and Translational Research, Academy of Athens, Athens, Greece.
Erato AtsaliThird Department of Pediatrics, Pediatric Rheumatology Unit, National and Kapodistrian University of Athens, 'Attikon' General University Hospital, Athens, Greece.
Melpomeni GiorgiThird Department of Pediatrics, Attikon University Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Argirios NtinopoulosThird Department of Pediatrics, Pediatric Neurology Unit, National and Kapodistrian University of Athens, 'Attikon' General University Hospital, Athens, Greece.
Clio MavraganiDepartment of Physiology, National and Kapodistrian University of Athens Medical School, Athens, Greece.
Periklis MakrythanasisBiomedical Research Foundation, Academy of Athens, Athens, Greece.
Dimitrios T BoumpasLaboratory of Autoimmunity and Inflammation, Center for Clinical, Biomedical Research Foundation, Experimental Surgery and Translational Research, Academy of Athens, Athens, Greece.
Aggelos BanosLaboratory of Autoimmunity and Inflammation, Center for Clinical, Biomedical Research Foundation, Experimental Surgery and Translational Research, Academy of Athens, Athens, Greece. abanos@bioacademy.gr.ORCID http://orcid.org/0000-0002-5647-6505

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundType I interferonopathies including Aicardi-Goutiéres Syndrome (AGS) represent a heterogeneous group of clinical phenotypes. Herein, we present a Case with combined AGS and Cornelia de Lange Syndrome (CdLS)-a cohesinopathy-with comprehensive analysis of the immune and genomic abnormalities. CASE AND

methodsA 20-year old man presented with chilblain lesions and resorption of distal phalanges of fingers and toes, somatic and psychomotor retardation, microcephaly, synophrys, hearing losing and other aberrancies consistent with the phenotype of CdLS. We used whole exome sequencing to genetically map the associated mutations and performed transcriptome profiling and enrichment analysis in CD14

resultsNext generation exome sequencing confirmed a homozygous SAMHD1 gene mutation and a hemizygous non-synonymous mutation on SMC1A gene, responsible for the AGS and CdLS, respectively. Transcriptome profiling of CD14

conclusionsA 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.

Indexed as

Autoimmune Diseases of the Nervous SystemCell Cycle ProteinsChromosomal Proteins, Non-HistoneDe Lange SyndromeDNA DamageInterferon Type INervous System MalformationsT-LymphocytesCohesinsExome SequencingHumansMaleMutationSAM Domain and HD Domain-Containing Protein 1Signal TransductionStructural Maintenance of Chromosome Protein 1Cell Cycle ProteinsChromosomal Proteins, Non-HistoneCohesinsInterferon Type ISAM Domain and HD Domain-Containing Protein 1SAMHD1 protein, humanStructural Maintenance of Chromosome Protein 1Aicardi-Goutiéres SyndromeCohesinopathyCornelia de Lange SyndromeDNA damage responseInterferonopathyLupus

Identifiers

PMID39871364
PMCPMC11770959

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.