The role of hematopoietic stem cell transplantation in SP110 associated veno‐occlusive disease with immunodeficiency syndrome. Issue 3 (1st March 2013)

• Record Type: Journal Article
• Authors: Ganaiem, Hammam; Eisenstein, Eli M.; Tenenbaum, Ariel; Somech, Raz; Simanovsky, Natalia; Roscioli, Tony; Weintraub, Michael; Stepensky, Polina
• Is Part Of: Pediatric allergy and immunology. Volume 24:Issue 3(2013)
• Page Start: 250
• Page End: 256
• Publication Date: 2013-03-01
• Subjects: Allergy in children -- Periodicals; Immunologic diseases in children -- Periodicals; 617
• DOI: 10.1111/pai.12051
• Languages: English
• ISSNs: 0905-6157

Abstract

<abstract abstract-type="main" id="pai12051-abs-0001"> <title>Abstract</title> <sec id="pai12051-sec-0001" sec-type="section"> <title>Background</title> <p>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.</p> </sec> <sec id="pai12051-sec-0002" sec-type="section"> <title>Patients and methods</title> <p>Review of clinical data, immunologic features, molecular studies, treatment, and final outcome of eight kindred members with VODI.</p> </sec> <sec id="pai12051-sec-0003" sec-type="section"> <title>Results</title> <p>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.</p> </sec> <sec id="pai12051-sec-0004" sec-type="section"> <title>Conclusions</title> <p>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.</p> </sec> </abstract>