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

Hammam Ganaiem, Eli M. Eisenstein, Ariel Tenenbaum, Raz Somech, Natalia Simanovsky, Tony Roscioli, Michael Weintraub, Polina Stepensky

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)250-256
Number of pages7
JournalPediatric Allergy and Immunology
Volume24
Issue number3
DOIs
StatePublished - May 2013
Externally publishedYes

Keywords

  • Combined immunodeficiency
  • Hematopoietic stem cell transplantation
  • SP110
  • Veno-occlusive disease with immunodeficiency

Fingerprint

Dive into the research topics of 'The role of hematopoietic stem cell transplantation in SP110 associated veno-occlusive disease with immunodeficiency syndrome'. Together they form a unique fingerprint.

Cite this