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

被引：0

作者：

Jesmeen Maimaris ^{[1
]}

Julia Payne ^{[2
]}

Adriel Roa-Bautista ^{[1
]}

Judith Breuer ^{[3
]}

Nathaniel Storey ^{[4
]}

Sofia Morfopoulou ^{[4
]}

Alasdair Bamford ^{[5
]}

Felice D’Arco ^{[6
]}

Kimberly Gilmour ^{[11
]}

Kristian Aquilina ^{[7
]}

Jane Hassell ^{[1
]}

Yael Hacohen ^{[8
]}

Adikarige H.D. Silva ^{[9
]}

Ashirwad Merve ^{[9
]}

Thomas S. Jacques ^{[9
]}

Kanchan Rao ^{[8
]}

Robert Chiesa ^{[9
]}

Persis Amrolia ^{[10
]}

Juliana Silva ^{[10
]}

Helen Braggins ^{[11
]}

Jinhua Xu-Bayford ^{[11
]}

David Goldblatt ^{[12
]}

Austen Worth ^{[11
]}

Claire Booth ^{[12
]}

Winnie Ip ^{[11
]}

Waseem Qasim ^{[12
]}

Maaike Kusters ^{[11
]}

Marios Kaliakatsos ^{[12
]}

Julianne R Brown ^{[1
]}

Reem Elfeky ^{[1
]}

机构：

[1] Great Ormond Street Hospital for Children,Department of Immunology

[2] NHS Foundation Trust,Microbiology, Virology and Infection Control

[3] University College London (UCL) Institute of Immunity and Transplantation,Department of Infection, Immunity and Inflammation

[4] Staffordshire Children’s Hospital at Royal Stoke,Deparment of Paediatric Infectious Diseases

[5] University Hospital of North Midlands NHS Trust,Department of Neuroradiology

[6] Royal Stoke University Hospital,Department of Paediatric Neurosurgery

[7] Great Ormond Street Hospital for Children,Department of Neurosciences

[8] NHS Foundation Trust,Department of Histopathology

[9] University College London (UCL) Great Ormond Street Institute of Child Health,Department of Blood and Bone Marrow Transplantation

[10] Great Ormond Street Hospital for Children NHS Foundation Trust,undefined

[11] Great Ormond Street Hospital for Children,undefined

[12] NHS Foundation Trust,undefined

[13] Great Ormond Street Hospital for Children NHS Foundation Trust,undefined

[14] Great Ormond Street Hospital for Children,undefined

[15] NHS Foundation Trust,undefined

[16] Great Ormond Street Hospital for Children,undefined

[17] NHS Foundation Trust,undefined

[18] University College London (UCL) Great Ormond Street Institute of Child Health,undefined

[19] Great Ormond Street Hospital for Children,undefined

[20] NHS Foundation Trust,undefined

来源：

Journal of Clinical Immunology | 2025年 / 45卷 / 1期

关键词：

Primary immunodeficiency; Brain biopsy; Metagenomics; Inborn errors of immunity; Infection;

D O I：

10.1007/s10875-025-01878-y

中图分类号：

学科分类号：

摘要：

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.

引用

共 10 条

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