The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review
<p>Abstract</p> <p>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....
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2010-06-01
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| Series: | Allergy, Asthma & Clinical Immunology |
| Online Access: | http://www.aacijournal.com/content/6/1/12 |
| _version_ | 1818363222442377216 |
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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 | DOAJ |
| description | <p>Abstract</p> <p>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.</p> |
| first_indexed | 2024-12-13T21:45:03Z |
| format | Article |
| id | doaj.art-4bd9f8daaa4d4a91a6d14820f0d4f501 |
| institution | Directory Open Access Journal |
| issn | 1710-1484 1710-1492 |
| language | English |
| last_indexed | 2024-12-13T21:45:03Z |
| publishDate | 2010-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Allergy, Asthma & Clinical Immunology |
| spelling | doaj.art-4bd9f8daaa4d4a91a6d14820f0d4f5012022-12-21T23:30:25ZengBMCAllergy, Asthma & Clinical Immunology1710-14841710-14922010-06-01611210.1186/1710-1492-6-12The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based reviewAmeratunga RohanWoon See-TarnNeas KatherineLove Donald R<p>Abstract</p> <p>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.</p>http://www.aacijournal.com/content/6/1/12 |
| spellingShingle | 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 Allergy, Asthma & Clinical Immunology |
| 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 |
| url | http://www.aacijournal.com/content/6/1/12 |
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