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Transcriptomic profiling of lesional and healthy skin in pemphigus patients reveals IL-17–driven immune response

GSE299468 Homo sapiens (human) RNA-seq (gene expression) 12 samples Submitted 2025/06/11 Platform GPL18573
At a glance

RNA-seq (gene expression) · human · 12 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
12 samples: 6 × lesional skin from pemphigus patient P vs 2 × healthy skin from healthy control HGroups 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.
Paper
Immunophenotyping in pemphigus reveals a T(H)17/T(FH)17 cell-dominated immune response promoting desmoglein1/3-specific autoantibody productionThe Journal of allergy and clinical immunology · 2021
Summary (written by the submitters)
Pemphigus is a rare autoimmune blistering skin disease characterized by autoantibodies against desmoglein 1 and/or 3. To better understand the immunopathology of pemphigus, we performed RNA sequencing of lesional skin biopsies from pemphigus patients (n=6) and compared them to skin biopsies from healthy controls (n=6). Our data reveal an IL-17/IL-21–dominated transcriptional signature, with upregulation of inflammatory cytokines, chemokines, and tissue remodeling genes.
Read the full summary ↓
These findings support the hypothesis that pemphigus pathogenesis is driven by a TH17/TFH17-type immune response and offer insights into potential therapeutic targets.
Published in
Immunophenotyping in pemphigus reveals a T(H)17/T(FH)17 cell-dominated immune response promoting desmoglein1/3-specific autoantibody production
Holstein J, Solimani F, Baum C et al. · The Journal of allergy and clinical immunology 2021 · PMID 33221382 · doi:10.1016/j.jaci.2020.11.008
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 GSE299468_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 PRJNA1274486 and SRA study SRP591101. Searching any of these in the dataset finder brings you back here.

Study design
6 × lesional skin from pemphigus patient P vs 2 × healthy skin from healthy control H

Supports a case/control comparison: 6 samples read as cases, 6 as controls.

How we read this: 2 replicated groups read from 12 sample titles; they account for 8 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
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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.