Targeted NGS based hereditary autoinflammatory disorder screening in routine diagnostics, two year experience in the Netherlands
| Autor: | Joost F. Swart, P van Zon, H-K Ploos van Amstel, M. E. van Gijn, Joost Frenkel, A van Royen-Kerkhof, W Harts, Martin G Elferink, Anna Simon |
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| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
Pediatrics
medicine.medical_specialty business.industry Hereditary Autoinflammatory Diseases food and beverages Treatment options Systemic inflammation Perinatology and Child Health Rheumatology Targeted ngs Pediatrics Perinatology and Child Health Poster Presentation Medicine Immunology and Allergy Disorder screening Pediatrics Perinatology and Child Health medicine.symptom business Genetic diagnosis |
| Zdroj: | Pediatric Rheumatology Online Journal |
| ISSN: | 1546-0096 |
| Popis: | Hereditary autoinflammatory diseases (AID) are characterized by recurrent bouts of systemic inflammation caused by dysregulation of the innate immunity system. The genotype-phenotype correlation can be highly variable which makes a genetic diagnosis in AID patients complex and laborious. A clear and definitive diagnosis cannot be provided for up to 80% of AID patients, which can be important for treatment options. To date, over 20 causal genes have been identified for monogenic AIDs. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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