Department of Pediatrics, Hadassah University Hospital, Jerusalem, Israel.
Pediatr Allergy Immunol. 2013 May;24(3):250-6. doi: 10.1111/pai.12051. Epub 2013 Mar 1.
Veno-occlusive disease with immunodeficiency (VODI) is an autosomal recessive disorder of combined immunodeficiency (CID) and hepatic injury. Hematopoietic stem cell transplantation (HSCT) - the only definitive treatment for CID - appeared to have a high rate of complications in a previous report. In this study, we describe a new group of patients with VODI highlighting further clinical and immunologic aspects of this disease and re-evaluating the effectiveness of HSCT for the treatment of this disorder.
Review of clinical data, immunologic features, molecular studies, treatment, and final outcome of eight kindred members with VODI.
The patients described had clinical and immunologic findings consistent with VODI. The molecular studies revealed a new mutation in the SP110 gene. HSCT was carried out in five patients and was successful in three.
The diagnosis of VODI should be considered in all patients regardless of ethnicity with a severe combined immunodeficiency (SCID)-like presentation, especially with a normal mitogen response, or with signs of hepatic injury. VODI is a primary immune deficiency, which can be successfully corrected by bone marrow transplantation if applied early in the course of disease using appropriate conditioning.
静脉闭塞病伴免疫缺陷（VODI）是一种常染色体隐性联合免疫缺陷（CID）和肝损伤疾病。造血干细胞移植（HSCT）是 CID 的唯一根治性治疗方法，在前一份报告中似乎有很高的并发症发生率。在本研究中，我们描述了一组新的 VODI 患者，强调了该疾病的进一步临床和免疫学特征，并重新评估了 HSCT 治疗该疾病的有效性。
回顾 8 个 VODI 家系成员的临床资料、免疫学特征、分子研究、治疗和最终结果。
描述的患者具有符合 VODI 的临床和免疫学发现。分子研究显示 SP110 基因的新突变。5 例患者接受 HSCT，3 例成功。
无论种族如何，对于具有严重联合免疫缺陷（SCID）样表现的患者，特别是具有正常有丝分裂原反应或有肝损伤迹象的患者，均应考虑 VODI 的诊断。VODI 是一种原发性免疫缺陷，如果在疾病早期应用适当的调理，通过骨髓移植可以成功纠正。
