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- Title
The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review.
- Authors
Ameratunga, Rohan; Woon, See-Tarn; Neas, Katherine; Love, Donald R
- Abstract
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.
- Publication
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology, 2010, Vol 6, Issue 1, p12
- ISSN
1710-1492
- Publication type
Journal Article
- DOI
10.1186/1710-1492-6-12