ABSTRACT
Most primary immunodeficiency diseases (PID) occur secondary to intrinsic defects of lymphocytic and/or phagocytic cell lineages. Therefore, replacement of geneticallyimpaired haematopoietic stem cells by normal haematopoietic stem cells is a logical therapeutic approach. The first reports of successful bone-marrow transplantation (BMT) for PID were published in 1968: Gatti et al. described correction of a severe combined immunodeficiency (SCID) case [1] and Bach et al. described partial correction of a Wiskott-Aldrich syndrome (WAS) case [2]. Since then, it is estimated that over 1500 patients with PID have undergone allogeneic BMT. About 19 different inherited immune deficiencies have been cured by BMT (Tables 15.1 and 15.2), including the different forms of SCID, other T-cell immunodeficiencies, WAS, various phagocytic cell diseases and more recently, hyper-IgM and X-linked proliferative (XLP) syndromes. BMT has also been used as a source of
mature T-cells to correct, at least for the duration of observation, the severe T-cell lymphocytopenia observed in DiGeorge’s syndrome [3]. Based on a better understanding of major histocompatibility complex (MHC) molecular biology, alternatives to BMT from HLA genetically identical donors have been proposed, for example, use of related, partially matched donors as well as matched unrelated donors.
