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Intravenous immunoglobulin has epigenetic, ribosomal, and immune effects in Paediatric Acute-Onset Neuropsychiatric syndrome

GSE293230 Homo sapiens (human) Single-cell RNA-seq 14 samples Submitted 2025/09/24 Platform GPL24676
At a glance

Single-cell RNA-seq · human · 14 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
14 samples: 11 distinct titles, 1 of them repeatedGroups 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
IV Immunoglobulin Is Associated With Epigenetic, Ribosomal, and Immune Changes in Pediatric Acute-Onset Neuropsychiatric SyndromeNeurology(R) neuroimmunology & neuroinflammation · 2025
Summary (written by the submitters)
Paediatric acute-onset neuropsychiatric syndrome (PANS) is characterised by infection-provoked abrupt and dramatic onset of obsessive compulsive disorder (OCD) or eating restriction, along with neurodevelopmental regression. Although the aetiology of PANS remains uncertain, due to a prevailing neuroimmune hypothesis, some children receive the immune modulator intravenous immunoglobulin (IVIg).
Read the full summary ↓
Using single-cell RNA sequencing of peripheral immune cells, we examined gene expression in five children with PANS (mean age 10.2 years, range 5–17, 60% male) who were receiving IVIg. Maternal autoimmunity (n=3) and familial neurodevelopmental/neuropsychiatric disorders (n=5) were present. The index PANS event occurred age 1.8–13 years, characterised by abrupt eating restriction (n=5), developmental regression (n=4), and OCD (n=3). Single-cell RNA sequencing (144,470 cells) was performed in five patients pre- and post-IVIg, and four controls (mean age 13.5 years, range 11–16, 50% male). In PANS pre-IVIg compared to controls, there were downregulated immune pathways (defense response, innate immunity, secretory granules) in most cell types. However, NK cells exhibited upregulated immune pathways (response to corticosteroid), supporting a baseline ‘immune dysregulation’. In PANS pre-IVIg compared to controls, ribosomal pathways were upregulated in neutrophils and CD8 T cells, but downregulated in NK cells. Post-IVIg, the previously downregulated immune pathways were upregulated in most cell types, and the baseline ribosomal pathway abnormalities were reversed. Histone modification pathways (histone methyltransferase, chromatin) were downregulated in neutrophils and NK cells post-IVIg. We propose PANS is an epigenetic immune-brain disorder with cellular epigenetic, ribosomal, and immune dysregulation. Therefore, epigenetic and immune-modulating therapies, such as IVIg, may have a critical role in treating this disabling disorder.
Published in
IV Immunoglobulin Is Associated With Epigenetic, Ribosomal, and Immune Changes in Pediatric Acute-Onset Neuropsychiatric Syndrome
Han VX, Nishida H, Keating BA et al. · Neurology(R) neuroimmunology & neuroinflammation 2025 · PMID 40953324 · doi:10.1212/NXI.0000000000200467
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 GSE293230_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 PRJNA1243391 and SRA study SRP574043. Searching any of these in the dataset finder brings you back here.

Study design
11 distinct titles, 1 of them repeated
Control ×4

Supports a case/control comparison: 10 samples read as cases, 4 as controls.

How we read this: Read from 14 sample titles: 11 distinct titles with little repetition. 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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