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Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency
Joint Authors
Hamdoun, Osama
Al Mulla, Asia
Al Zaabi, Shamma
Shendi, Hiba
al-Ghamdi, Sharifa Abd Allah
Hertecant, Jozef
Al-Shibli, Amar
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-01-10
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Hamdoun, Osama& Al Mulla, Asia& Al Zaabi, Shamma& Shendi, Hiba& al-Ghamdi, Sharifa Abd Allah& Hertecant, Jozef…[et al.]. 2020. Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency. Case Reports in Pediatrics،Vol. 2020, no. 2020, pp.1-4.
https://search.emarefa.net/detail/BIM-1150625
Modern Language Association (MLA)
Hamdoun, Osama…[et al.]. Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency. Case Reports in Pediatrics No. 2020 (2020), pp.1-4.
https://search.emarefa.net/detail/BIM-1150625
American Medical Association (AMA)
Hamdoun, Osama& Al Mulla, Asia& Al Zaabi, Shamma& Shendi, Hiba& al-Ghamdi, Sharifa Abd Allah& Hertecant, Jozef…[et al.]. Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency. Case Reports in Pediatrics. 2020. Vol. 2020, no. 2020, pp.1-4.
https://search.emarefa.net/detail/BIM-1150625
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1150625