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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...

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Autores principales: Ho, Hsi-en, Cunningham-Rundles, Charlotte
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
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.
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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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