Excel · study · 2026
DEEP IMMUNOLOGIC PROFILING OF TRISOMY 8 ASSOCIATED AUTOINFLAMMATORY DISEASE (TRIAD)
Listed in NCBI GEO
Trisomy 8 mosaicism is a cytogenetic abnormality often seen in hematologic malignancies but also associated with inflammatory disease.
Description
We characterized individuals with trisomy 8 mosaicism and inflammatory symptoms in the absence of malignancy. Subjects presented with recurrent episodes of fever and oral, genital, and gastrointestinal ulcers in childhood.
We propose calling this distinct autoinflammatory disease trisomy 8-associated autoinflammatory disease or TRIAD. CITE-seq in subjects with 6 subjects with trisomy 8 and inflammatory disease and 3 healthy controls revealed expansion of classical CD14+ monocytes with an IL-1b and type 1 IFN signature. We identified trisomy and disomy cells in trisomy 8 subjects using expression levels of genes on chromosome 8.
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We found that myeloid cells had high percentage trisomy 8 cells, and trisomy CD14+ monocytes had higher expression of type I IFN, type II IFN, and IL-1b signaling pathways compared to healthy controls. However, among lymphocytes, naïve T lymphocytes had high levels of trisomy 8 cells, while their effector/memory counterparts had low levels. Trisomy 8 memory CD8+ T cell had lower expression of cytotoxic genes compared to disomy cells and healthy controls.
Significantly fewer trisomy 8 cells were noted among expanded CD8+ memory T clones compared to unexpanded clones.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE272nnn/GSE272583 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE272583 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1137376 ncbi.nlm.nih.gov/bioproject/PRJNA1137376 ↗
project · from NCBI GEO
Topics
- Stated by source
- Expression profiling by high throughput sequencing · Homo sapiens
- From keywords
- Life Sciences
- Inferred from text
- Disease 75%
Provenance · 1 source records, 8 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| NCBI GEO | GSE272583 | 15 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[disease].local:disease:disease | enrichment · NCBI GEO | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[field].local:field:life-sciences | mapping · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[method].geo_series_type:expression-profiling-by-high-throughput-sequencing | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /gdstype |
| concepts[organism].NCBITaxon:9606 | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /taxon |
| description | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /summary |
| publication_date | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| title | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /title |