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SCID is a group of inherited diseases with genetic defects characterized by severe abnormalities in the immune system. The only potential cure is allogeneic hematopoietic stem cell transplantation (SCT) and in rare cases gene therapy.
Our objective herein was to review the outcome of factors determining outcome of all children who received SCT for a diagnosis of SCID in Rambam Medical Center, Israel. From 1996 to 2013 twenty children with different genetic types of SCID underwent SCT. Median age at SCT for 19 children was 8 months , 1 child was transplanted at age of 14 years due to loss of graft. Median time from diagnosis to SCT was 2 months.
11 children had graft from matched family donor, 6 from sibling and 5 from other family members, 4-unrelated cord and 5-Haploidentical SCT. Protocol regimen before SCT included Busulphan-based in 50% of patients, 25% were transplanted without conditioning regimen and 25% children received Treosulphan based protocol. Overall survival was 60%. Almost all survived children underwent SCT with Busulphan conditioning regimen died from transplant related complications. Most of the patients that were diagnosed late had severe infections before SCT. 6 children were early diagnosed due to family history of SCID. They didn't suffer from any infections prior to transplantation and all are alive ( figure 1 ). Better prognosis was also in a group with Treosulphan based conditioning regimen ( figure 2 ). Incidence of acute graft-versus host disease (GVHD) was 15%.
Allogeneic SCT is effective for cure and survival in SCID patients. Early diagnosis of SCID and performing SCT before the appearance of severe infection, as well as reduced toxicity regimen will improve significantly survival. Development of new protocols with low toxicity drugs for Conditioning regimen and newborn screening for SCID are needed for highly favorable outcome.
