STEM CELL TRANSPLANTATION FOR PRIMARY IMMUNODEFICIENCY

Severe combined immunodeficiency (SCID) is a heterogeneous group of disorders associated with early death due to opportunistic infection. Stem cell transplant (SCT) is now considered the standard of care for SCID because it represents the only hope of cure, and as techniques have improved it is increasingly a consideration for children with less severe primary immunodeficiencies (PIDs). Despite its being available in South Africa, to date only a handful of transplants have been performed. Major limiting factors are a lack of awareness of both the condition and the possibility of cure by means of SCT. Despite a relative paucity of matched sibling donors and limited access to umbilical cord blood stem cells, most patients can be transplanted from a haploidentical maternal donor. Age at transplant is an important prognostic factor and patients with SCID should be transplanted as early as possible. A family history of death in infancy due to severe or recurrent infection or the development of Bacille Calmette-Guerin (BCG) infection should prompt early consideration of a PID, since delays in diagnosis and transplant preparation frequently lead to complications which compromise the chances of successful SCT. The purpose of this article is to give the primary paediatrician and the immunologist insight into the practicalities and pitfalls of SCT for PID. We hope to encourage prompt and efficient referral of patients for transplant and to foster effective shared care of these patients.