NDLI: Laboratory diagnosis of primary immunodeficiencies.

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Laboratory diagnosis of primary immunodeficiencies.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Locke, Bradley A. Dasu, Trivikram Verbsky, James W.
Description	Country affiliation: United States Author Affiliation: Locke BA ( Department of Pediatrics, Division of Allergy and Clinical Immunology, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.)
Abstract	Primary immune deficiency disorders represent a highly heterogeneous group of disorders with an increased propensity to infections and other immune complications. A careful history to delineate the pattern of infectious organisms and other complications is important to guide the workup of these patients, but a focused laboratory evaluation is essential to the diagnosis of an underlying primary immunodeficiency. Initial workup of suspected immune deficiencies should include complete blood counts and serologic tests of immunoglobulin levels, vaccine titers, and complement levels, but these tests are often insufficient to make a diagnosis. Recent advancements in the understanding of the immune system have led to the development of novel immunologic assays to aid in the diagnosis of these disorders. Classically utilized to enumerate lymphocyte subsets, flow cytometric-based assays are increasingly utilized to test immune cell function (e.g., neutrophil oxidative burst, NK cytotoxicity), intracellular cytokine production (e.g., TH17 production), cellular signaling pathways (e.g., phosphor-STAT analysis), and protein expression (e.g., BTK, Foxp3). Genetic testing has similarly expanded greatly as more primary immune deficiencies are defined, and the use of mass sequencing technologies is leading to the identification of novel disorders. In order to utilize these complex assays in clinical care, one must have a firm understanding of the immunologic assay, how the results are interpreted, pitfalls in the assays, and how the test affects treatment decisions. This article will provide a systematic approach of the evaluation of a suspected primary immunodeficiency, as well as provide a comprehensive list of testing options and their results in the context of various disease processes.
File Format	HTM / HTML
ISSN	10800549
Issue Number	2
Volume Number	46
e-ISSN	15590267
Journal	Clinical Reviews in Allergy & Immunology
Language	English
Publisher	Springer
Publisher Date	2014-04-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Allergy and Immunology Clinical Laboratory Techniques Methods Immunologic Deficiency Syndromes Diagnosis T-lymphocytes Immunology Animals Cell Separation Standards Cytokines Metabolism Cytotoxicity, Immunologic Flow Cytometry Humans Oxidative Stress Signal Transduction Statistics As Topic Journal Article Review
Content Type	Text
Resource Type	Article
Subject	Immunology and Allergy

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