Whole exome analysis of primary immunodeficiency
The human primary immunodeficiency diseases (PIDs) refer to a rare heterogeneous group of single-gene inherited disorders causing malfunctions in the immune system, and thus the affected patients have a predisposition to severe life-threatening infections. The heterogeneous nature of PIDs, which inv...
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| Format: | Article |
| Language: | English |
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Siberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and Breeders
2018-08-01
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| Series: | Вавиловский журнал генетики и селекции |
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| Online Access: | https://vavilov.elpub.ru/jour/article/view/1598 |
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| author | E. S. Rahmani Н. Azarpara M. Karimipoor Н. Rahimi |
| author_facet | E. S. Rahmani Н. Azarpara M. Karimipoor Н. Rahimi |
| author_sort | E. S. Rahmani |
| collection | DOAJ |
| description | The human primary immunodeficiency diseases (PIDs) refer to a rare heterogeneous group of single-gene inherited disorders causing malfunctions in the immune system, and thus the affected patients have a predisposition to severe life-threatening infections. The heterogeneous nature of PIDs, which involves at list 300 different genes, makes diagnosis of the disease a complex issue. Although studies revealed that six million people have a kind of PID, but due to a complex diagnosis procedure many affected individuals have not gotten a correct diagnosis. However, thanks to advancing in the DNA sequencing method and availability of sophisticated sequencers molecular characterization of genetic disorders have been revolutionized. The whole exome sequencing (WES) method can help clinicians detect Mendelian disease and other complex genetic disorders. The presented study used WES to investigate two infants with symptoms of primary immunodeficiency including hemophagocytic lymphohistiocytosis (HLH) and severe combined immunodeficiency (SCID). It has been shown that the HLH patient had a mutation in the UNC13D gene (NM_199242.2:c.627delT), and the SCID patient had a mutation in the RAG1 gene (NM_000448.2:c.322C>G). It has been demonstrated that WES is a fast and cost-effective method facilitating genetic diagnosis in PID sufferers. |
| format | Article |
| id | doaj-art-6db8445b3da346a5a7925b3050198df9 |
| institution | Kabale University |
| issn | 2500-3259 |
| language | English |
| publishDate | 2018-08-01 |
| publisher | Siberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and Breeders |
| record_format | Article |
| series | Вавиловский журнал генетики и селекции |
| spelling | doaj-art-6db8445b3da346a5a7925b3050198df92025-02-01T09:58:06ZengSiberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and BreedersВавиловский журнал генетики и селекции2500-32592018-08-0122562062610.18699/VJ18.403800Whole exome analysis of primary immunodeficiencyE. S. Rahmani0Н. Azarpara1M. Karimipoor2Н. Rahimi3Iran University of Medical SciencesIran University of Medical SciencesBiotechnology Research Center, Pasteur Institute of IranBiotechnology Research Center, Pasteur Institute of IranThe human primary immunodeficiency diseases (PIDs) refer to a rare heterogeneous group of single-gene inherited disorders causing malfunctions in the immune system, and thus the affected patients have a predisposition to severe life-threatening infections. The heterogeneous nature of PIDs, which involves at list 300 different genes, makes diagnosis of the disease a complex issue. Although studies revealed that six million people have a kind of PID, but due to a complex diagnosis procedure many affected individuals have not gotten a correct diagnosis. However, thanks to advancing in the DNA sequencing method and availability of sophisticated sequencers molecular characterization of genetic disorders have been revolutionized. The whole exome sequencing (WES) method can help clinicians detect Mendelian disease and other complex genetic disorders. The presented study used WES to investigate two infants with symptoms of primary immunodeficiency including hemophagocytic lymphohistiocytosis (HLH) and severe combined immunodeficiency (SCID). It has been shown that the HLH patient had a mutation in the UNC13D gene (NM_199242.2:c.627delT), and the SCID patient had a mutation in the RAG1 gene (NM_000448.2:c.322C>G). It has been demonstrated that WES is a fast and cost-effective method facilitating genetic diagnosis in PID sufferers.https://vavilov.elpub.ru/jour/article/view/1598primary immunodeficiencynext-generation sequencingunc13drag1 |
| spellingShingle | E. S. Rahmani Н. Azarpara M. Karimipoor Н. Rahimi Whole exome analysis of primary immunodeficiency Вавиловский журнал генетики и селекции primary immunodeficiency next-generation sequencing unc13d rag1 |
| title | Whole exome analysis of primary immunodeficiency |
| title_full | Whole exome analysis of primary immunodeficiency |
| title_fullStr | Whole exome analysis of primary immunodeficiency |
| title_full_unstemmed | Whole exome analysis of primary immunodeficiency |
| title_short | Whole exome analysis of primary immunodeficiency |
| title_sort | whole exome analysis of primary immunodeficiency |
| topic | primary immunodeficiency next-generation sequencing unc13d rag1 |
| url | https://vavilov.elpub.ru/jour/article/view/1598 |
| work_keys_str_mv | AT esrahmani wholeexomeanalysisofprimaryimmunodeficiency AT nazarpara wholeexomeanalysisofprimaryimmunodeficiency AT mkarimipoor wholeexomeanalysisofprimaryimmunodeficiency AT nrahimi wholeexomeanalysisofprimaryimmunodeficiency |