Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency

Author:

Hamdoun Osama1ORCID,Al Mulla Asia1,Al Zaabi Shamma1,Shendi Hiba2,Al Ghamdi Sharifa2,Hertecant Jozef2,Al-Shibli Amar2

Affiliation:

1. Department of Academic Affairs, Tawam Hospital, Al-Ain, UAE

2. Department of Pediatrics, Tawam Hospital, Al-Ain, UAE

Abstract

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.

Publisher

Hindawi Limited

Subject

General Medicine

Cited by 1 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Cytomegalovirus in primary immunodeficiency;Current Opinion in Infectious Diseases;2021-10-01

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