← BioTransfer GEO Dataset Finder
GEO series

S100A8/A9 contributes to inflammatory exacerbations in neutrophils and monocytes from PAMI syndrome

GSE270695 Homo sapiens (human) RNA-seq (gene expression) 52 samples Submitted 2026/06/25 Platform GPL18573
At a glance

RNA-seq (gene expression) · human · 52 samples

What it is
RNA-seq (gene expression)Gene activity measured by sequencing. The summary does not mention single-cell work, so this is most likely bulk: one average per sample, the usual starting point for comparing groups.
Organism
Homo sapiens (human)
Samples
52 samples: 19 conditions, mostly in duplicateGroups are read from the sample names, not from the paper. Check the list below.
Data you can get
A processed table (series matrix) and supplementary files from NCBI; the raw sequencing reads from ENA. Which of these hold counts depends on the study, so check the file list.
Summary (written by the submitters)
Proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated myeloid-related proteinemia inflammatory (PAMI) syndrome is a monogenic autoinflammatory disease characterized by progressive arthritis with neutrophilic infiltration, cytopenia, and high serum S100A8/A9 and zinc. The molecular pathophysiology of PAMI caused by particular variants of the PSTPIP1 gene, such as PSTPIP1 E250K, is still unknown, and targeted therapy based on the pathogenesis has not been developed.
Read the full summary ↓
We established an analytical model of neutrophils and monocytes/macrophages using induced pluripotent stem cells harboring the PAMI variant and another PSTPIP1 E250Q variant observed in PSTPIP1-related disorders with milder phenotypes. Using the model cells, we demonstrated increased production of reactive oxygen species, inflammatory cytokines, S100A8/9, increased cell death in the E250K neutrophils, and increased production of cytokines and abnormal phenotype of E250K monocytes/macrophages. With these model cells, we delved into the molecular basis of the hyperinflammation and pronounced S100A8/A9 production. Our data revealed that S100A8/A9 was at the center of hyperinflammation in PAMI syndrome and its deletion can reverse functional and molecular abnormalities in the phagocytes.
This dataset
Download · which file do I need?

Direct links to NCBI and ENA, no account and no request form. Pick by what you want to do: take the small processed table to look, the supplementary files to re-analyse, or the original raw data to start over.

1 · Just have a look

Processed table

The series matrix: one table of values per sample as the submitters processed it. The smallest download, and it opens in Excel or R. Start here to see what the data look like.

2 · Re-analyse it

Supplementary files

The count tables and other files the authors uploaded. Take only the samples you need, or the whole study as GSE270695_RAW.tar (it can run to tens of gigabytes).

3 · Start from the raw reads

Raw sequencing reads

The original FASTQ files, straight from the sequencer, held at ENA. Large, and you align them yourself, so only choose this if you need to re-process the study from scratch.

What the files usually look like: For RNA-seq the counts are usually a table among the supplementary files (look for 'counts', 'expression', 'FPKM' or 'TPM' in the file name). The series matrix of a sequencing study is sometimes nearly empty.

Also filed as BioProject PRJNA1128020 and SRA study SRP516032. Searching any of these in the dataset finder brings you back here.

Study design
19 conditions, mostly in duplicate
DK22200-MOsMPs-E250K-LPS ×2 DK22200-MOsMPs-E250K-S100KO-LPS ×2 DK22200-MOsMPs-E250K-S100KO-UT ×2 DK22200-MOsMPs-E250K-UT ×2 DK22200-MOsMPs-E250Q-LPS ×2 DK22200-MOsMPs-E250Q-UT ×2 DK22200-MOsMPs-WT-LPS ×2 DK22200-MOsMPs-WT-UT ×2 +25 more

Supports a between-group comparison across 38 samples.

How we read this: 19 replicated groups read from 52 sample titles; they account for 38 of them. These groups are guessed from the sample names, not taken from the paper, so check them against the sample list below before relying on them.

Samples in this study

+ 12 more — browse all 52 samples with per-sample file links →

Datasets on a similar topic

Search all human RNA-seq datasets in GEO →

Share this dataset

Metadata from NCBI GEO, cached and refreshed periodically — the NCBI page above is authoritative. Downloads link straight to NCBI/ENA; nothing is proxied through BioTransfer.