The Outcome of Hematopoietic Stem Cell Transplantation Among Patients With Severe Combined Immunodeficiency is Similar to Patients With Hurler Syndrome
Saturday, March 3, 2018
South Hall A2 (Convention Center)
Melanie Conway, MD, FRCPC, Ryan Chan, HBSc, Jessie MacDonald, HBSc, Adam Gassas, MD, Eyal Grunebaum, MD

Compared to patients with Hurler Syndrome (HS), children with severe combined immunodeficiency (SCID) often suffer from infections that might affect outcome following hematopoietic stem cell transplantation (HSCT).


A retrospective chart review was conducted among 31 SCID and 16 HS patients who received HSCT at <2 years of age at The Hospital for Sick Children between 2000-2012. Data was collected regarding pre-HSCT infections, donor source and HLA disparity, conditioning and GvHD prophylaxis as well as post-HSCT donor engraftment, infections, development of acute and chronic GvHD and 2-year survival. Comparison between groups was conducted by Fisher’s exact test with p<0.05 considered as statistically significant.


Infections, particularly pneumonia and bacteremia, were more common (p=0.038) pre-HSCT among patients with SCID than with HS (87% versus 56%, respectively). Other pre-HSCT characteristics were similar, apart from the more common conditioning with anti-thymocyte globulin and/or irradiation among patients with HS (p<0.001). After HSCT, neutrophil engraftment occurred by day 14 in 71.4% of patients with SCID but none of the patients with HS (p<0.001). The incidence of infections post-HSCT was similar between groups. Acute GvHD was detected among 61% and 56% of patients with SCID and HS, respectively, while chronic GvHD occurred in 45% and 38%, respectively; differences that were not significant. Two-year survival post-HSCT among patients with SCID was 22/31 (71%), similar to that among HS patients (75%).


Our study indicates that the presence of infections and other pre-HSCT characteristics do not have significant effects on the outcome of HSCT in patients with SCID.