No abstract

We review clinical outcome and immune reconstitution in a consecutive series of 74 infants with severe T cell immunodeficiency who received hematopoietic cell transplantation (HCT) from January 1991 to May 2003. Fifty-three patients (71.6%) are alive. Results were significantly better for recipients of HCT from HLA-matched related donors (100% survival) and unrelated donors (86.4%) than from mismatched related donors (51.6%). A detailed analysis of immune reconstitution and clinical status was performed in 49 surviving patients, most of which have attained robust T and B cell reconstitution and are in very good clinical conditions. No cases of late deaths or of chronic graft-versus-host disease (GvHD) have been observed. However, infections and autoimmunity at >1 year after HCT have been observed in a significant number of patients. Persistence of a low number of circulating naive T cells and long-term requirement for intravenous immunoglobulin were associated with a higher incidence of clinical events.

BMT is curative in almost 75% of children affected by severe primary immunodeficiencies (PIDs). Recently, the chance of cure has increased thanks to the availability of matched unrelated donors (MUDs). Nevertheless, besides the conventional indications to BMT (profound or absent T-cell function, profound or absent natural killer function, known syndromes with T-cell deficiencies), indications to BMT for PIDs affecting the quality of life or having an expectation of life that does not exceed the third-fourth decade remain unclear. Infact, if it is evident that the survival rate in an infant grafted for a PID with a MUD is expected to be more than 80%, alternative treatments such as gene therapy are now available.