{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T00:58:24Z","timestamp":1775091504476,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,3,1]],"date-time":"2013-03-01T00:00:00Z","timestamp":1362096000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Allergy Immunology"],"published-print":{"date-parts":[[2013,5]]},"abstract":"Abstract<\/jats:title>Background<\/jats:title>Veno\u2010occlusive disease with immunodeficiency (VODI<\/jats:styled-content>) is an autosomal recessive disorder of combined immunodeficiency (CID<\/jats:styled-content>) and hepatic injury. Hematopoietic stem cell transplantation (HSCT<\/jats:styled-content>) \u2013 the only definitive treatment for CID<\/jats:styled-content> \u2013 appeared to have a high rate of complications in a previous report. In this study, we describe a new group of patients with VODI<\/jats:styled-content> highlighting further clinical and immunologic aspects of this disease and re\u2010evaluating the effectiveness of HSCT<\/jats:styled-content> for the treatment of this disorder.<\/jats:p><\/jats:sec>Patients and methods<\/jats:title>Review of clinical data, immunologic features, molecular studies, treatment, and final outcome of eight kindred members with VODI<\/jats:styled-content>.<\/jats:p><\/jats:sec>Results<\/jats:title>The patients described had clinical and immunologic findings consistent with VODI<\/jats:styled-content>. The molecular studies revealed a new mutation in the SP<\/jats:styled-content>110 gene. HSCT<\/jats:styled-content> was carried out in five patients and was successful in three.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>The diagnosis of VODI<\/jats:styled-content> should be considered in all patients regardless of ethnicity with a severe combined immunodeficiency (SCID<\/jats:styled-content>)\u2010like presentation, especially with a normal mitogen response, or with signs of hepatic injury. VODI<\/jats:styled-content> 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.<\/jats:p><\/jats:sec>","DOI":"10.1111\/pai.12051","type":"journal-article","created":{"date-parts":[[2013,3,1]],"date-time":"2013-03-01T22:03:47Z","timestamp":1362175427000},"page":"250-256","source":"Crossref","is-referenced-by-count":18,"title":["The role of hematopoietic stem cell transplantation in SP<\/scp>110 associated veno\u2010occlusive disease with immunodeficiency syndrome"],"prefix":"10.1111","volume":"24","author":[{"given":"Hammam","family":"Ganaiem","sequence":"first","affiliation":[{"name":"Department of Pediatrics Hadassah University Hospital Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eli M.","family":"Eisenstein","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hadassah University Hospital Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ariel","family":"Tenenbaum","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hadassah University Hospital Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raz","family":"Somech","sequence":"additional","affiliation":[{"name":"Cancer Research Center and Pediatric Immunology Service Jeffery Modell Foundation (JMF) Center Tel Hashomer Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Simanovsky","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging Hadassah University Hospital Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tony","family":"Roscioli","sequence":"additional","affiliation":[{"name":"School of Women's and Children's Health, University of New South Wales, Department of Haematology and Genetics Prince of Wales Hospital Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Weintraub","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hemato\u2010Oncology and Bone Marrow Transplantation Hadassah University Hospital Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Polina","family":"Stepensky","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hemato\u2010Oncology and Bone Marrow Transplantation Hadassah University Hospital Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,3]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(76)80988-2"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1780"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-011-1452-3"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1019978122881"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2002-23204"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.20.16.6138-6146.2000"},{"key":"e_1_2_8_8_1","volume-title":"GeneReviews\u2122","author":"Roscioli T","year":"1993"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2012.02.054"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1759"},{"key":"e_1_2_8_11_1","first-page":"Unit","article-title":"Measurement of proliferative responses of cultured lymphocytes","volume":"7","author":"James SP","year":"2001","journal-title":"Curr Protoc Immunol"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/ACI.0b013e32834c233a"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992288502400204"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2003.07.003"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.iy.12.040194.001001"},{"key":"e_1_2_8_16_1","first-page":"S2","article-title":"Abstracts of the 15th Biennial Meeting of the European Society for Immunodeficiency. 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