Transplant Outcomes for Primary Immunodeficiencies in a Tertiary Center 1995-2015

Rationale:  Hematopoietic stem cell transplantation (HSCT) for severe combined immunodeficiency (SCID) and other selected primary immunodeficiencies (PID) is becoming standard of care. Delayed diagnosis prior to transplant significantly worsen outcome. Our study aims to describe children with PID who underwent HSCT and investigate their outcome.

Methods: We performed a retrospective analysis of children with PID who underwent HSCT from 1995 to 2015. 

Results: Twenty-Four patients with PID underwent HSCT between 1995-2015.  Of those, 13 patients had SCID, 3 had Wiskott- Aldrich syndrome, 2 had CD40-ligand deficiency, 3 had HLH, 2 had CGD, and 1 had Chediak-Higashi syndrome.  Infections were reported in all patients before transplantation, more than half of the patients had multiple infections prior to transplantation.  Viral antibody screen pre-HSCT showed that 70% were positive for CMV, 35% were positive for EBV, and 30% were positive for HHV6. The incidence of acute GVHD grade 1 or 2 was 22%, and 19% for grade 3 or 4 at 100 days.  Chronic GVHD at 2 years was reported in 1 patient.  T-cell recovery was noted in more than 90% of patients.  Discontinuation of immunoglobulin replacement was possible in 17 out of 18 living patients.  Second transplant was done for 3 patients.  Death was reported in 25% of patients, of those 67% were SCID, and the majority died within one year of HSCT.

Conclusions: We describe a cohort of patients with PID who underwent HSCT. Mostt patients had mulitple infections prior transplant.  Outcomes varied among patients with different primary diagnosis. Additional studies are needed to study the outcomes of HSCT in PID patients.