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:	Sandro Félix Perazzio, Patricia Palmeira, Dewton Moraes-Vasconcelos, Andréia Rangel-Santos, João Bosco de Oliveira, Luis Eduardo Coelho Andrade, Magda Carneiro-Sampaio
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	inborn errors of immunity primary immunodeficiencies quality assessment (QAS) standardization reference range Immunologic diseases. Allergy RC581-607
Acceso en línea:	https://doaj.org/article/e628662cc1d44f1b8238f8936443ee5a
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spelling	oai:doaj.org-article:e628662cc1d44f1b8238f8936443ee5a2021-11-09T06:33:56ZA Critical Review on the Standardization and Quality Assessment of Nonfunctional Laboratory Tests Frequently Used to Identify Inborn Errors of Immunity1664-322410.3389/fimmu.2021.721289https://doaj.org/article/e628662cc1d44f1b8238f8936443ee5a2021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fimmu.2021.721289/fullhttps://doaj.org/toc/1664-3224Inborn 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.Sandro Félix PerazzioSandro Félix PerazzioPatricia PalmeiraDewton Moraes-VasconcelosAndréia Rangel-SantosJoão Bosco de OliveiraLuis Eduardo Coelho AndradeLuis Eduardo Coelho AndradeMagda Carneiro-SampaioMagda Carneiro-SampaioFrontiers Media S.A.articleinborn errors of immunityprimary immunodeficienciesquality assessment (QAS)standardizationreference rangeImmunologic diseases. AllergyRC581-607ENFrontiers in Immunology, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	inborn errors of immunity primary immunodeficiencies quality assessment (QAS) standardization reference range Immunologic diseases. Allergy RC581-607
spellingShingle	inborn errors of immunity primary immunodeficiencies quality assessment (QAS) standardization reference range Immunologic diseases. Allergy RC581-607 Sandro Félix Perazzio Sandro Félix Perazzio Patricia Palmeira Dewton Moraes-Vasconcelos Andréia Rangel-Santos João Bosco de Oliveira Luis Eduardo Coelho Andrade Luis Eduardo Coelho Andrade Magda Carneiro-Sampaio Magda Carneiro-Sampaio A Critical Review on the Standardization and Quality Assessment of Nonfunctional Laboratory Tests Frequently Used to Identify Inborn Errors of Immunity
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.
format	article
author	Sandro Félix Perazzio Sandro Félix Perazzio Patricia Palmeira Dewton Moraes-Vasconcelos Andréia Rangel-Santos João Bosco de Oliveira Luis Eduardo Coelho Andrade Luis Eduardo Coelho Andrade Magda Carneiro-Sampaio Magda Carneiro-Sampaio
author_facet	Sandro Félix Perazzio Sandro Félix Perazzio Patricia Palmeira Dewton Moraes-Vasconcelos Andréia Rangel-Santos João Bosco de Oliveira Luis Eduardo Coelho Andrade Luis Eduardo Coelho Andrade Magda Carneiro-Sampaio Magda Carneiro-Sampaio
author_sort	Sandro Félix Perazzio
title	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_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_sort	critical review on the standardization and quality assessment of nonfunctional laboratory tests frequently used to identify inborn errors of immunity
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/e628662cc1d44f1b8238f8936443ee5a
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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

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