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Epigenetic, ribosomal, and immune dysregulation in Paediatric Acute Neuropsychiatric Syndrome [RNA-Seq]

GSE278678 Homo sapiens (human) Single-cell RNA-seq 28 samples Submitted 2025/09/11 Platform GPL24676
At a glance

Single-cell RNA-seq · human · 28 samples

What it is
Single-cell RNA-seqGene activity measured in thousands of individual cells, so cell types can be told apart. Read from the summary: GEO's own type field only says 'expression profiling by sequencing', so confirm it in the paper.
Organism
Homo sapiens (human)
Samples
28 samples: 10 × Control vs 9 × PostIVIG vs 9 × PreIVIGGroups 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
Epigenetic, ribosomal, and immune dysregulation in paediatric acute-onset neuropsychiatric syndromeMolecular psychiatry · 2025
Summary (written by the submitters)
Paediatric Acute Neuropsychiatric Syndrome (PANS) is characterised by abrupt onset obsessive compulsive disorder and regression in neurodevelopmental skills, triggered by infection or stress. Whether PANS is a distinct entity or part of a neurodevelopmental spectrum is uncertain, and its pathophysiology unclear. We show that children with PANS and other non-PANS neurodevelopmental disorders have higher reported early childhood infections and loss of previously acquired developmental skills compared to neurotypical controls.
Read the full summary ↓
Children with PANS have normal routine immune testing, however bulk RNA-sequencing revealed upregulated pathways in ribosomal biogenesis and RNA methyltransferases, and downregulated pathways in diverse cellular functions such as mitochondrial activity, cell signalling, endocytosis, and immune responses. Single-cell RNA-sequencing confirmed these findings but showed heterogeneity across immune cell types. Toll-like receptor stimulation assay using peripheral blood mononuclear cells revealed reduced TNF and interleukin-6 responses in PANS patients compared to controls. RNA sequencing before and after intravenous immunoglobulin treatment in PANS patients revealed reversal of the dysregulated ribosomal, epigenetic, and cell signaling pathways. Given the central role of the immune system in synaptic pruning and neurodevelopment, these insights provide rationale for novel epigenetic and immune modulating therapies to optimize neurodevelopmental trajectories and minimize neuropsychiatric impairment.
Published in
Epigenetic, ribosomal, and immune dysregulation in paediatric acute-onset neuropsychiatric syndrome
Han VX, Alshammery S, Keating BA et al. · Molecular psychiatry 2025 · PMID 40885847 · doi:10.1038/s41380-025-03127-5
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 GSE278678_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: Single-cell studies usually ship their counts as 10x files (matrix.mtx, barcodes.tsv, features.tsv), an .h5 file, or an .rds / .h5ad object that Seurat or Scanpy can open. Look for those among the supplementary files.

Also filed as BioProject PRJNA1168401 and SRA study SRP536368. Searching any of these in the dataset finder brings you back here.

Study design
10 × Control vs 9 × PostIVIG vs 9 × PreIVIG

Supports a between-group comparison across 28 samples.

How we read this: 3 replicated groups read from 28 sample titles; they account for 28 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.