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VEXAS syndrome, myelodysplasia cutis and sweet syndrome skin lesions share a common transcriptomic profile led by interferon signaling

GSE245639 Homo sapiens (human) RNA-seq (gene expression) 25 samples Submitted 2025/04/01 Platform GPL24676
At a glance

RNA-seq (gene expression) · human · 25 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)
Topic
Myelodysplastic syndromesThis series is part of our curated briefing on it.
Samples
25 samples: 5 conditions, mostly with about 5 replicates eachGroups 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
Inflammatory Signatures in VEXAS Syndrome, Myelodysplasia Cutis, and Sweet SyndromeJAMA dermatology · 2025
Summary (written by the submitters)
VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently described monogenic disease of adult men cause by somatic mutations in UBA1 in hematopoietic progenitor cells. It associates inflammatory-related symptoms, frequently involving the skin, and hematologic disorders. Myelodysplasia cutis, also recently described, is a cutaneous manifestation of myelodysplasia in which clonal myeloid cells infiltrate the skin.
Read the full summary ↓
In both cases, skin lesions are due to the infiltration of clonal mutated myeloid cells and may clinically and histologically resemble sweet syndrome, a non-clonal neutrophilic skin disease. The aim of this study was to decipher the underlying mechanisms driving these three myeloid-related skin diseases using RNA-sequencing compared with healthy control skins and leukemia cutis, a neoplastic myeloid-related skin condition.
Published in
Inflammatory Signatures in VEXAS Syndrome, Myelodysplasia Cutis, and Sweet Syndrome
Grolleau C, Battistella M, Zakine E et al. · JAMA dermatology 2025 · PMID 40072458 · doi:10.1001/jamadermatol.2025.0034
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 GSE245639_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 PRJNA1029488 and SRA study SRP466988. Searching any of these in the dataset finder brings you back here.

Study design
5 conditions, mostly with about 5 replicates each
VEXAS syndrome ×6 Idiopathic sweet syndrome ×5 Leukemia-cutis ×5 Healthy control ×5 MDS-cutis ×4

Supports a between-group comparison across 25 samples.

How we read this: 5 replicated groups read from 25 sample titles; they account for 25 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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