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A rapid turnaround gene panel for severe autoinflammation: Genetic results within 48 hours

There is an important unmet clinical need for fast turnaround next generation sequencing (NGS) to aid genetic diagnosis of patients with acute and sometimes catastrophic inflammatory presentations. This is imperative for patients who require precise and targeted treatment to prevent irreparable orga...

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Autores principales: McCreary, Dara, Omoyinmi, Ebun, Hong, Ying, Jensen, Barbara, Burleigh, Alice, Price-Kuehne, Fiona, Gilmour, Kimberly, Eleftheriou, Despina, Brogan, Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9531256/
https://www.ncbi.nlm.nih.gov/pubmed/36203604
http://dx.doi.org/10.3389/fimmu.2022.998967
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author McCreary, Dara
Omoyinmi, Ebun
Hong, Ying
Jensen, Barbara
Burleigh, Alice
Price-Kuehne, Fiona
Gilmour, Kimberly
Eleftheriou, Despina
Brogan, Paul
author_facet McCreary, Dara
Omoyinmi, Ebun
Hong, Ying
Jensen, Barbara
Burleigh, Alice
Price-Kuehne, Fiona
Gilmour, Kimberly
Eleftheriou, Despina
Brogan, Paul
author_sort McCreary, Dara
collection PubMed
description There is an important unmet clinical need for fast turnaround next generation sequencing (NGS) to aid genetic diagnosis of patients with acute and sometimes catastrophic inflammatory presentations. This is imperative for patients who require precise and targeted treatment to prevent irreparable organ damage or even death. Acute and severe hyper- inflammation may be caused by primary immunodeficiency (PID) with immune dysregulation, or more typical autoinflammatory diseases in the absence of obvious immunodeficiency. Infectious triggers may be present in either immunodeficiency or autoinflammation. We compiled a list of 25 genes causing monogenetic immunological diseases that are notorious for their acute first presentation with fulminant inflammation and which may be amenable to specific treatment, including hemophagocytic lymphohistiocytosis (HLH); and autoinflammatory diseases that can present with early-onset stroke or other irreversible neurological inflammatory complications. We designed and validated a pipeline that enabled return of clinically actionable results in hours rather than weeks: the Rapid Autoinflammation Panel (RAP). We demonstrated accuracy of this new pipeline, with 100% sensitivity and 100% specificity. Return of results to clinicians was achieved within 48-hours from receiving the patient’s blood or saliva sample. This approach demonstrates the potential significant diagnostic impact of NGS in acute medicine to facilitate precision medicine and save “life or limb” in these critical situations.
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spelling pubmed-95312562022-10-05 A rapid turnaround gene panel for severe autoinflammation: Genetic results within 48 hours McCreary, Dara Omoyinmi, Ebun Hong, Ying Jensen, Barbara Burleigh, Alice Price-Kuehne, Fiona Gilmour, Kimberly Eleftheriou, Despina Brogan, Paul Front Immunol Immunology There is an important unmet clinical need for fast turnaround next generation sequencing (NGS) to aid genetic diagnosis of patients with acute and sometimes catastrophic inflammatory presentations. This is imperative for patients who require precise and targeted treatment to prevent irreparable organ damage or even death. Acute and severe hyper- inflammation may be caused by primary immunodeficiency (PID) with immune dysregulation, or more typical autoinflammatory diseases in the absence of obvious immunodeficiency. Infectious triggers may be present in either immunodeficiency or autoinflammation. We compiled a list of 25 genes causing monogenetic immunological diseases that are notorious for their acute first presentation with fulminant inflammation and which may be amenable to specific treatment, including hemophagocytic lymphohistiocytosis (HLH); and autoinflammatory diseases that can present with early-onset stroke or other irreversible neurological inflammatory complications. We designed and validated a pipeline that enabled return of clinically actionable results in hours rather than weeks: the Rapid Autoinflammation Panel (RAP). We demonstrated accuracy of this new pipeline, with 100% sensitivity and 100% specificity. Return of results to clinicians was achieved within 48-hours from receiving the patient’s blood or saliva sample. This approach demonstrates the potential significant diagnostic impact of NGS in acute medicine to facilitate precision medicine and save “life or limb” in these critical situations. Frontiers Media S.A. 2022-09-20 /pmc/articles/PMC9531256/ /pubmed/36203604 http://dx.doi.org/10.3389/fimmu.2022.998967 Text en Copyright © 2022 McCreary, Omoyinmi, Hong, Jensen, Burleigh, Price-Kuehne, Gilmour, Eleftheriou and Brogan https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Immunology
McCreary, Dara
Omoyinmi, Ebun
Hong, Ying
Jensen, Barbara
Burleigh, Alice
Price-Kuehne, Fiona
Gilmour, Kimberly
Eleftheriou, Despina
Brogan, Paul
A rapid turnaround gene panel for severe autoinflammation: Genetic results within 48 hours
title A rapid turnaround gene panel for severe autoinflammation: Genetic results within 48 hours
title_full A rapid turnaround gene panel for severe autoinflammation: Genetic results within 48 hours
title_fullStr A rapid turnaround gene panel for severe autoinflammation: Genetic results within 48 hours
title_full_unstemmed A rapid turnaround gene panel for severe autoinflammation: Genetic results within 48 hours
title_short A rapid turnaround gene panel for severe autoinflammation: Genetic results within 48 hours
title_sort rapid turnaround gene panel for severe autoinflammation: genetic results within 48 hours
topic Immunology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9531256/
https://www.ncbi.nlm.nih.gov/pubmed/36203604
http://dx.doi.org/10.3389/fimmu.2022.998967
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