Evidence map›Paper›PMID 40237937›Full record

ArticleJournal of clinical immunology2025

Safety and Diagnostic Utility of Brain Biopsy and Metagenomics in Decision-Making for Patients with Inborn Errors of Immunity (IEI) and Unexplained Neurological Manifestations.

Jesmeen Maimaris, Julia Payne, Adriel Roa-Bautista, Judith Breuer, Nathaniel Storey, Sofia Morfopoulou, Alasdair Bamford, Felice D'Arco, Kimberly Gilmour, Kristian Aquilina and 20 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of clinical immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. Current infectious disease management challenges in inborn errors of immunity.Annals of clinical microbiology and antimicrobials · 2025
    Review
  5. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

30 authors.

Jesmeen MaimarisDepartment of Immunology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, WC1N 3JH, UK. j.maimaris@ucl.ac.uk.
Julia PayneDepartment of Immunology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, WC1N 3JH, UK.
Adriel Roa-BautistaStaffordshire Children's Hospital at Royal Stoke, University Hospital of North Midlands NHS Trust, Royal Stoke University Hospital, Newcastle Road, Stoke-on-Trent, UK.
Judith BreuerMicrobiology, Virology and Infection Control, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, WC1N 3JH, UK.
Nathaniel StoreyMicrobiology, Virology and Infection Control, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, WC1N 3JH, UK.
Sofia MorfopoulouDepartment of Infection, Immunity and Inflammation, University College London (UCL) Great Ormond Street Institute of Child Health, London, UK.
Alasdair BamfordDeparment of Paediatric Infectious Diseases, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Felice D'ArcoDepartment of Neuroradiology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, WC1N 3JH, UK.
Kimberly GilmourDepartment of Immunology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, WC1N 3JH, UK.
Kristian AquilinaDepartment of Paediatric Neurosurgery, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK.
Jane HassellDepartment of Neurosciences, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, WC1N 3JH, UK.
Yael HacohenDepartment of Neurosciences, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, WC1N 3JH, UK.
Adikarige H D SilvaDepartment of Paediatric Neurosurgery, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK.
Ashirwad MerveDepartment of Histopathology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, WC1N 3JH, UK.
Thomas S JacquesDepartment of Histopathology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, WC1N 3JH, UK.
Kanchan RaoUniversity College London (UCL) Great Ormond Street Institute of Child Health, London, UK.
Robert ChiesaUniversity College London (UCL) Great Ormond Street Institute of Child Health, London, UK.
Persis AmroliaUniversity College London (UCL) Great Ormond Street Institute of Child Health, London, UK.
Juliana SilvaUniversity College London (UCL) Great Ormond Street Institute of Child Health, London, UK.
Helen BragginsDepartment of Immunology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, WC1N 3JH, UK.
Jinhua Xu-BayfordDepartment of Immunology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, WC1N 3JH, UK.
David GoldblattDepartment of Immunology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, WC1N 3JH, UK.
Austen WorthDepartment of Immunology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, WC1N 3JH, UK.
Claire BoothDepartment of Immunology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, WC1N 3JH, UK.
Winnie IpDepartment of Immunology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, WC1N 3JH, UK.
Waseem QasimDepartment of Immunology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, WC1N 3JH, UK.
Maaike KustersDepartment of Immunology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, WC1N 3JH, UK.
Marios KaliakatsosDepartment of Paediatric Neurosurgery, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK.
Julianne R Brown *Microbiology, Virology and Infection Control, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, WC1N 3JH, UK.
Reem Elfeky *Department of Immunology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, WC1N 3JH, UK.

Funding

Brain Tumour Charity GN-000707
6 · The paper itself

Abstract

Unexplained neurological symptoms can pose a diagnostic challenge in patients with inborn errors of immunity (IEI) where the aetiology can be varied, and diverse pathologies may require contrasting treatments. Brain biopsy, the process of sampling brain tissue directly, has historically provided histological and microbiological information and can now be exploited for deep metagenomic next generation analysis (mNGS). We conducted a retrospective analysis of clinical and diagnostic data on paediatric patients with IEI who had a brain biopsy between 2010 and 2022 at a UK tertiary centre where 14 patients fulfilled our search criteria. We report on clinical characteristics, adverse events and the additional impact of mNGS of brain biopsies, where these were conducted. We found that brain biopsy enabled diagnostics with manageable complications in most cases, either by tissue or metagenomics analysis (n = 11/14, 79%). We found that mNGS analysis improved the diagnostic yield of brain biopsy in 29% of IEI cases (n = 4/14). Brain biopsy enabled a change in management in 71% of cases (n = 10/14). This series provides compelling evidence for the safe and purposeful use of brain biopsy in children with IEI.

Indexed as

BrainMetagenomicsNervous System DiseasesAdolescentBiopsyChildChild, PreschoolClinical Decision-MakingFemaleHigh-Throughput Nucleotide SequencingHumansInfantMaleRetrospective StudiesBrain biopsyInborn errors of immunityInfectionMetagenomicsPrimary immunodeficiency

Identifiers

PMID40237937
PMCPMC12003468

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.