Hamdoun Osama, Al Mulla Asia, Al Zaabi Shamma, Shendi Hiba, Al Ghamdi Sharifa, Hertecant Jozef, Al-Shibli Amar
Department of Academic Affairs, Tawam Hospital, Al-Ain, UAE.
Department of Pediatrics, Tawam Hospital, Al-Ain, UAE.
Case Rep Pediatr. 2020 Jan 10;2020:3460631. doi: 10.1155/2020/3460631. eCollection 2020.
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 gene, presenting with classical phenotypic manifestations of VODI. He presented at the age of 3 months with opportunistic infections and later developed liver failure. . 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.
伴有免疫缺陷的家族性肝静脉闭塞病（VODI，OMIM：235550）是一种罕见的联合免疫缺陷（CID）形式，在生命的最初几个月出现，表现为发育不良、反复感染、机会性感染以及肝功能损害。在此，我们描述一名在该基因中存在纯合新型变异的巴基斯坦患者，其表现出VODI的典型表型特征。他在3个月大时出现机会性感染，随后发展为肝功能衰竭。伴有免疫缺陷的肝静脉闭塞病是免疫缺陷的罕见病因，这是中东地区首例来自巴基斯坦裔患者的病例报告。对于在生命早期出现CID表现和肝功能紊乱的患者，高度怀疑这种疾病很重要，因为诊断和治疗越早，预后越好。
