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

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 def...

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Detalles Bibliográficos
Autores principales: Ameratunga, Rohan, Woon, See-Tarn, Neas, Katherine, Love, Donald R
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2903612/
https://www.ncbi.nlm.nih.gov/pubmed/20529312
http://dx.doi.org/10.1186/1710-1492-6-12
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author Ameratunga, Rohan
Woon, See-Tarn
Neas, Katherine
Love, Donald R
author_facet Ameratunga, Rohan
Woon, See-Tarn
Neas, Katherine
Love, Donald R
author_sort Ameratunga, Rohan
collection PubMed
description 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.
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spelling pubmed-29036122010-07-14 The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review Ameratunga, Rohan Woon, See-Tarn Neas, Katherine Love, Donald R Allergy Asthma Clin Immunol Review 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. BioMed Central 2010-06-08 /pmc/articles/PMC2903612/ /pubmed/20529312 http://dx.doi.org/10.1186/1710-1492-6-12 Text en Copyright ©2010 Ameratunga et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review
Ameratunga, Rohan
Woon, See-Tarn
Neas, Katherine
Love, Donald R
The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review
title The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review
title_full The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review
title_fullStr The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review
title_full_unstemmed The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review
title_short The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review
title_sort clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2903612/
https://www.ncbi.nlm.nih.gov/pubmed/20529312
http://dx.doi.org/10.1186/1710-1492-6-12
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