Chapter 2
Molecular Methods for Diagnosis of Genetic Diseases Involving the Immune System
AMY P. Hsu,
AMY P. Hsu
Search for more papers by this authorAMY P. Hsu,
AMY P. Hsu
Search for more papers by this authorBook Editor(s):Barbara Detrick,
John L. Schmitz,
Robert G. Hamilton,
Barbara Detrick
Johns Hopkins University, School of Medicine, Baltimore, Maryland
Search for more papers by this authorJohn L. Schmitz
University of North Carolina, School of Medicine, Chapel Hill, North Carolina
Search for more papers by this authorRobert G. Hamilton
Johns Hopkins University, School of Medicine, Baltimore, Maryland
Search for more papers by this authorFirst published: 27 January 2016
Abstract
Disorders of the immune system affect a significant number of individuals, with prevalence estimates (per 100,000) determined by registries ranging from 5.6 in Australia (1) to 4.979 in France, 2.6 in The Netherlands, and down to 1.377 in Germany (2). Accurate diagnosis of immune system disorders may allow early intervention prior to extensive illness for severe disease, or more specific treatment in the case of later-diagnosed or milder disease. This chapter explores some of the current molecular methodologies for detecting disorders of the immune system and highlights specific pitfalls that may hinder accurate diagnosis.
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