Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency
Familial hepatic veno-occlusive disease with immunodeficiency (VODI, OMIM: 235550) is a rare form of combined immune deficiency (CID) that presents in the first few months of life with failure to thrive, recurrent infections, opportunistic infections along with liver impairment. Herein, we are descr...
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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2020/3460631 |
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| author | Osama Hamdoun Asia Al Mulla Shamma Al Zaabi Hiba Shendi Sharifa Al Ghamdi Jozef Hertecant Amar Al-Shibli |
| author_facet | Osama Hamdoun Asia Al Mulla Shamma Al Zaabi Hiba Shendi Sharifa Al Ghamdi Jozef Hertecant Amar Al-Shibli |
| author_sort | Osama Hamdoun |
| collection | DOAJ |
| description | Familial hepatic veno-occlusive disease with immunodeficiency (VODI, OMIM: 235550) is a rare form of combined immune deficiency (CID) that presents in the first few months of life with failure to thrive, recurrent infections, opportunistic infections along with liver impairment. Herein, we are describing a Pakistani patient with a homozygous novel variant in the SP110 gene, presenting with classical phenotypic manifestations of VODI. He presented at the age of 3 months with opportunistic infections and later developed liver failure. Conclusion. Hepatic veno-occlusive disease with immunodeficiency is a rare cause of immunodeficiency, and this is the first case report from the Middle East in a patient of Pakistani origin. It is important to have a high suspicion for this disease, in patients presenting early life with a picture of CID and deranged liver function, as the earlier the diagnosis and treatment, the better the prognosis. |
| format | Article |
| id | doaj-art-21aa54201ad84f2a8baab90d30c10c79 |
| institution | OA Journals |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-21aa54201ad84f2a8baab90d30c10c792025-08-20T02:04:06ZengWileyCase Reports in Pediatrics2090-68032090-68112020-01-01202010.1155/2020/34606313460631Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with ImmunodeficiencyOsama Hamdoun0Asia Al Mulla1Shamma Al Zaabi2Hiba Shendi3Sharifa Al Ghamdi4Jozef Hertecant5Amar Al-Shibli6Department of Academic Affairs, Tawam Hospital, Al-Ain, UAEDepartment of Academic Affairs, Tawam Hospital, Al-Ain, UAEDepartment of Academic Affairs, Tawam Hospital, Al-Ain, UAEDepartment of Pediatrics, Tawam Hospital, Al-Ain, UAEDepartment of Pediatrics, Tawam Hospital, Al-Ain, UAEDepartment of Pediatrics, Tawam Hospital, Al-Ain, UAEDepartment of Pediatrics, Tawam Hospital, Al-Ain, UAEFamilial hepatic veno-occlusive disease with immunodeficiency (VODI, OMIM: 235550) is a rare form of combined immune deficiency (CID) that presents in the first few months of life with failure to thrive, recurrent infections, opportunistic infections along with liver impairment. Herein, we are describing a Pakistani patient with a homozygous novel variant in the SP110 gene, presenting with classical phenotypic manifestations of VODI. He presented at the age of 3 months with opportunistic infections and later developed liver failure. Conclusion. Hepatic veno-occlusive disease with immunodeficiency is a rare cause of immunodeficiency, and this is the first case report from the Middle East in a patient of Pakistani origin. It is important to have a high suspicion for this disease, in patients presenting early life with a picture of CID and deranged liver function, as the earlier the diagnosis and treatment, the better the prognosis.http://dx.doi.org/10.1155/2020/3460631 |
| spellingShingle | Osama Hamdoun Asia Al Mulla Shamma Al Zaabi Hiba Shendi Sharifa Al Ghamdi Jozef Hertecant Amar Al-Shibli Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency Case Reports in Pediatrics |
| title | Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency |
| title_full | Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency |
| title_fullStr | Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency |
| title_full_unstemmed | Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency |
| title_short | Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency |
| title_sort | unique mutation in sp110 resulting in hepatic veno occlusive disease with immunodeficiency |
| url | http://dx.doi.org/10.1155/2020/3460631 |
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