Bone marrow transplantation in severe combined immunodeficiency

Abstract

Severe combined immunodeficiencies diseases (SCID) are a group of primary immunodeficiencies disorders with a fatal prognosis if they are not treated with a bone marrow transplant (BMT). In the last 8 years, we have treated four male patients with SCID, two of them with an identical bone marrow (sibling donor) and the other two with haploindentical T cell depleted parental bone marrow. Before transplantation the main clinical characteristics included: recurrent infections in 4/4, BCG disseminated infections in 2/4, IgG and IgM paraproteins in 1/4 and transplacentally-transferred maternal cell (chimerism) in 1/4. All patients had severe lung complications before BMT including bronquiectasies in 2/4. Two recipients of HLA-identical marrow achieved immunological reconstitution at 1 and 3 months after infusion. Both are alive and healthy at 1 and 7 years after BMT. In constrast, both infants who were treated with T-cell depleted haploidentical marrow died of severe bacterial infections at 1 and 2 months post-transpantation In this report we discuss the im-plications of BMT and the importance of an early diagnosis in these group of immunodeficiencies.