The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: A case based review

被引：26
作者：
Ameratunga R. [1 ,2 ]
Woon S.-T. [2 ]
Neas K. [3 ]
Love D.R. [2 ]
机构：
[1] Department of Clinical Immunology, Auckland City Hospital, Grafton, Auckland, Park Rd
[2] LabPlus, Auckland City Hospital, Grafton, Auckland, Park Rd
[3] Central and Southern Regional Genetic Services, Wellington Hospital, Wellington
来源：
Allergy, Asthma & Clinical Immunology | / 6卷 / 1期
关键词：
Chronic Granulomatous Disease; Hereditary Angioedema; Severe Combine Immune Deficiency; Common Variable Immune Deficiency; Primary Immunodeficiency Disorder;
D O I：
10.1186/1710-1492-6-12
中图分类号：
学科分类号：
摘要：
Primary immune deficiency disorders (PIDs) are a group of diseases associated with a genetic predisposition to recurrent infections, malignancy, autoimmunity and allergy. The molecular basis of many of these disorders has been identified in the last two decades. Most are inherited as single gene defects. Identifying the underlying genetic defect plays a critical role in patient management including diagnosis, family studies, prognostic information, prenatal diagnosis and is useful in defining new diseases. In this review we outline the clinical utility of molecular testing for these disorders using clinical cases referred to Auckland Hospital. It is written from the perspective of a laboratory offering a wide range of tests for a small developed country. © 2010 Ameratunga et al; licensee BioMed Central Ltd.
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