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Seeking Relevant Biomarkers in Common Variable Immunodeficiency
Common variable immunodeficiency (CVID) is the most common symptomatic form of primary immunodeficiency. More than 50% of patients in some series suffer from autoimmune or inflammatory complications (the “CVID+” phenotype), and these are not adequately addressed by current treatments. Despite major...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8962738/ https://www.ncbi.nlm.nih.gov/pubmed/35359997 http://dx.doi.org/10.3389/fimmu.2022.857050 |
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author | Ho, Hsi-en Cunningham-Rundles, Charlotte |
author_facet | Ho, Hsi-en Cunningham-Rundles, Charlotte |
author_sort | Ho, Hsi-en |
collection | PubMed |
description | Common variable immunodeficiency (CVID) is the most common symptomatic form of primary immunodeficiency. More than 50% of patients in some series suffer from autoimmune or inflammatory complications (the “CVID+” phenotype), and these are not adequately addressed by current treatments. Despite major advancements in genetics, the pathogenesis of the CVID+ phenotype has remained unexplained for most patients, necessitating the need for relevant biomarkers in both the clinic and research settings. In the clinics, reduced isotype-switched memory B cells (≤ 0.55% of B cells) and reduced T cells (CD4) can be utilized to identify those with increased complication risks. Additionally, condition-specific markers have also been suggested for lymphoma (normal or elevated IgM) and progressive interstitial lung disease (increased BAFF, normal or elevated IgM). Additional biomarkers have provided insights into disease pathogenesis, demonstrating wider systemic inflammation (increased LBP, sCD14, and sCD25; expanded ILC3), mucosal defects (increased zonulin, I-FABP), and perhaps reduced anti-inflammatory capability (reduced HDL) in CVID. Most recently, efforts have revealed elevated circulating bioactive bacterial DNA levels – marking microbial translocation and potentially linking the causation of multiple inflammatory changes previously observed in CVID. The implementation of high throughput profiling techniques may accelerate the search of relevant biomarker profiles in CVID and lead to better clinical risk stratification, revealing disease insights, and identifying potential therapeutic targets. |
format | Online Article Text |
id | pubmed-8962738 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-89627382022-03-30 Seeking Relevant Biomarkers in Common Variable Immunodeficiency Ho, Hsi-en Cunningham-Rundles, Charlotte Front Immunol Immunology Common variable immunodeficiency (CVID) is the most common symptomatic form of primary immunodeficiency. More than 50% of patients in some series suffer from autoimmune or inflammatory complications (the “CVID+” phenotype), and these are not adequately addressed by current treatments. Despite major advancements in genetics, the pathogenesis of the CVID+ phenotype has remained unexplained for most patients, necessitating the need for relevant biomarkers in both the clinic and research settings. In the clinics, reduced isotype-switched memory B cells (≤ 0.55% of B cells) and reduced T cells (CD4) can be utilized to identify those with increased complication risks. Additionally, condition-specific markers have also been suggested for lymphoma (normal or elevated IgM) and progressive interstitial lung disease (increased BAFF, normal or elevated IgM). Additional biomarkers have provided insights into disease pathogenesis, demonstrating wider systemic inflammation (increased LBP, sCD14, and sCD25; expanded ILC3), mucosal defects (increased zonulin, I-FABP), and perhaps reduced anti-inflammatory capability (reduced HDL) in CVID. Most recently, efforts have revealed elevated circulating bioactive bacterial DNA levels – marking microbial translocation and potentially linking the causation of multiple inflammatory changes previously observed in CVID. The implementation of high throughput profiling techniques may accelerate the search of relevant biomarker profiles in CVID and lead to better clinical risk stratification, revealing disease insights, and identifying potential therapeutic targets. Frontiers Media S.A. 2022-03-11 /pmc/articles/PMC8962738/ /pubmed/35359997 http://dx.doi.org/10.3389/fimmu.2022.857050 Text en Copyright © 2022 Ho and Cunningham-Rundles 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 Ho, Hsi-en Cunningham-Rundles, Charlotte Seeking Relevant Biomarkers in Common Variable Immunodeficiency |
title | Seeking Relevant Biomarkers in Common Variable Immunodeficiency |
title_full | Seeking Relevant Biomarkers in Common Variable Immunodeficiency |
title_fullStr | Seeking Relevant Biomarkers in Common Variable Immunodeficiency |
title_full_unstemmed | Seeking Relevant Biomarkers in Common Variable Immunodeficiency |
title_short | Seeking Relevant Biomarkers in Common Variable Immunodeficiency |
title_sort | seeking relevant biomarkers in common variable immunodeficiency |
topic | Immunology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8962738/ https://www.ncbi.nlm.nih.gov/pubmed/35359997 http://dx.doi.org/10.3389/fimmu.2022.857050 |
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