The role of hematopoietic stem cell transplantation in SP110 associated veno-occlusive disease with immunodeficiency syndrome.

Abstract

BACKGROUND:

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.

PATIENTS AND METHODS:

Review of clinical data, immunologic features, molecular studies, treatment, and final outcome of eight kindred members with VODI.

RESULTS:

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.

CONCLUSIONS:

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.

• Authors: Hammam Ganaiem, Eli M Eisenstein, Ariel Tenenbaum, Raz Somech, Natalia Simanovsky, Tony Roscioli, Michael Weintraub, Polina Stepensky
• Journal: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology (Pediatr Allergy Immunol) Vol. 24 Issue 3 Pg. 250-6 (May 2013) ISSN: 1399-3038 [Electronic] England
• PMID: 23448538 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2013 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd.

Chemical References

• Minor Histocompatibility Antigens
• Nuclear Proteins
• Sp110 protein, human

Topics

• Child, Preschool
• DNA Mutational Analysis
• Hematopoietic Stem Cell Transplantation
• Hepatic Veno-Occlusive Disease (complications, genetics, therapy)
• Humans
• Immunologic Deficiency Syndromes (complications, genetics, therapy)
• Infant
• Infant, Newborn
• Liver (pathology)
• Male
• Minor Histocompatibility Antigens
• Nuclear Proteins (genetics)
• Transplantation Conditioning
• Treatment Outcome