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A Critical Review on the Standardization and Quality Assessment of Nonfunctional Laboratory Tests Frequently Used to Identify Inborn Errors of Immunity

Inborn errors of immunity (IEI), which were previously termed primary immunodeficiency diseases, represent a large and growing heterogeneous group of diseases that are mostly monogenic. In addition to increased susceptibility to infections, other clinical phenotypes have recently been associated wit...

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Autores principales: Perazzio, Sandro Félix, Palmeira, Patricia, Moraes-Vasconcelos, Dewton, Rangel-Santos, Andréia, de Oliveira, João Bosco, Andrade, Luis Eduardo Coelho, Carneiro-Sampaio, Magda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8630704/
https://www.ncbi.nlm.nih.gov/pubmed/34858394
http://dx.doi.org/10.3389/fimmu.2021.721289
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author Perazzio, Sandro Félix
Palmeira, Patricia
Moraes-Vasconcelos, Dewton
Rangel-Santos, Andréia
de Oliveira, João Bosco
Andrade, Luis Eduardo Coelho
Carneiro-Sampaio, Magda
author_facet Perazzio, Sandro Félix
Palmeira, Patricia
Moraes-Vasconcelos, Dewton
Rangel-Santos, Andréia
de Oliveira, João Bosco
Andrade, Luis Eduardo Coelho
Carneiro-Sampaio, Magda
author_sort Perazzio, Sandro Félix
collection PubMed
description Inborn errors of immunity (IEI), which were previously termed primary immunodeficiency diseases, represent a large and growing heterogeneous group of diseases that are mostly monogenic. In addition to increased susceptibility to infections, other clinical phenotypes have recently been associated with IEI, such as autoimmune disorders, severe allergies, autoinflammatory disorders, benign lymphoproliferative diseases, and malignant manifestations. The IUIS 2019 classification comprises 430 distinct defects that, although rare individually, represent a group affecting a significant number of patients, with an overall prevalence of 1:1,200-2,000 in the general population. Early IEI diagnosis is critical for appropriate therapy and genetic counseling, however, this process is deeply dependent on accurate laboratory tests. Despite the striking importance of laboratory data for clinical immunologists, several IEI-relevant immunoassays still lack standardization, including standardized protocols, reference materials, and external quality assessment programs. Moreover, well-established reference values mostly remain to be determined, especially for early ages, when the most severe conditions manifest and diagnosis is critical for patient survival. In this article, we intend to approach the issue of standardization and quality control of the nonfunctional diagnostic tests used for IEI, focusing on those frequently utilized in clinical practice. Herein, we will focus on discussing the issues of nonfunctional immunoassays (flow cytometry, enzyme-linked immunosorbent assays, and turbidimetry/nephelometry, among others), as defined by the pure quantification of proteins or cell subsets without cell activation or cell culture-based methods.
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spelling pubmed-86307042021-12-01 A Critical Review on the Standardization and Quality Assessment of Nonfunctional Laboratory Tests Frequently Used to Identify Inborn Errors of Immunity Perazzio, Sandro Félix Palmeira, Patricia Moraes-Vasconcelos, Dewton Rangel-Santos, Andréia de Oliveira, João Bosco Andrade, Luis Eduardo Coelho Carneiro-Sampaio, Magda Front Immunol Immunology Inborn errors of immunity (IEI), which were previously termed primary immunodeficiency diseases, represent a large and growing heterogeneous group of diseases that are mostly monogenic. In addition to increased susceptibility to infections, other clinical phenotypes have recently been associated with IEI, such as autoimmune disorders, severe allergies, autoinflammatory disorders, benign lymphoproliferative diseases, and malignant manifestations. The IUIS 2019 classification comprises 430 distinct defects that, although rare individually, represent a group affecting a significant number of patients, with an overall prevalence of 1:1,200-2,000 in the general population. Early IEI diagnosis is critical for appropriate therapy and genetic counseling, however, this process is deeply dependent on accurate laboratory tests. Despite the striking importance of laboratory data for clinical immunologists, several IEI-relevant immunoassays still lack standardization, including standardized protocols, reference materials, and external quality assessment programs. Moreover, well-established reference values mostly remain to be determined, especially for early ages, when the most severe conditions manifest and diagnosis is critical for patient survival. In this article, we intend to approach the issue of standardization and quality control of the nonfunctional diagnostic tests used for IEI, focusing on those frequently utilized in clinical practice. Herein, we will focus on discussing the issues of nonfunctional immunoassays (flow cytometry, enzyme-linked immunosorbent assays, and turbidimetry/nephelometry, among others), as defined by the pure quantification of proteins or cell subsets without cell activation or cell culture-based methods. Frontiers Media S.A. 2021-11-09 /pmc/articles/PMC8630704/ /pubmed/34858394 http://dx.doi.org/10.3389/fimmu.2021.721289 Text en Copyright © 2021 Perazzio, Palmeira, Moraes-Vasconcelos, Rangel-Santos, de Oliveira, Andrade and Carneiro-Sampaio 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
Perazzio, Sandro Félix
Palmeira, Patricia
Moraes-Vasconcelos, Dewton
Rangel-Santos, Andréia
de Oliveira, João Bosco
Andrade, Luis Eduardo Coelho
Carneiro-Sampaio, Magda
A Critical Review on the Standardization and Quality Assessment of Nonfunctional Laboratory Tests Frequently Used to Identify Inborn Errors of Immunity
title A Critical Review on the Standardization and Quality Assessment of Nonfunctional Laboratory Tests Frequently Used to Identify Inborn Errors of Immunity
title_full A Critical Review on the Standardization and Quality Assessment of Nonfunctional Laboratory Tests Frequently Used to Identify Inborn Errors of Immunity
title_fullStr A Critical Review on the Standardization and Quality Assessment of Nonfunctional Laboratory Tests Frequently Used to Identify Inborn Errors of Immunity
title_full_unstemmed A Critical Review on the Standardization and Quality Assessment of Nonfunctional Laboratory Tests Frequently Used to Identify Inborn Errors of Immunity
title_short A Critical Review on the Standardization and Quality Assessment of Nonfunctional Laboratory Tests Frequently Used to Identify Inborn Errors of Immunity
title_sort critical review on the standardization and quality assessment of nonfunctional laboratory tests frequently used to identify inborn errors of immunity
topic Immunology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8630704/
https://www.ncbi.nlm.nih.gov/pubmed/34858394
http://dx.doi.org/10.3389/fimmu.2021.721289
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