SUCCESSFUL BONE MARROW TRANSPLANTATION IN DIGEORGE SYNDROME

Abstract

DiGeorge syndrome is a congenital immunodeficiency disorder with variable degrees of T cell immunity. Immunologic reconstitution with fetal thymic tissue or hormones has shown varied success, and appropriate tissue is difficult to obtain. A patient with DiGeorge syndrome presented at day 3 with hypocalcemia, seizures, Tetralogy of Fallot, and typical facies. Thymus shadow was absent on X-ray. Parathormone level was low. Evaluation at 26 weeks showed normal lymphocyte count, T cells 16% by E rosette, 1% by pan-T cell monoclonal antibody, B cells 65%, IgG 277 mg/dl, IgM 61 mg/dl, IgA 0, IgE 15 IU/ml, isohemagglutinins present at titer 1:1. Phytohemagglutinin (PHA), antigen and allogeneic stimulation were flat. Factor thymic serique was present at 1/4 (low),thymosin α1 was 700 pg/ml (normal). Because of the profound T cell defect with antibody defect, we performed bone marrow transplant (BMT) with 1.16 × 109 nucleated cells/kg from her HLA,A,B,C matched, DR mismatched, MLC non-reactive brother without conditioning. There was no evidence of GVH disease. PHA stimulated lymphocytes now show XY karyotype and T cells are 43% by E rosette. EB virus stimulated B cells are 29/30 XY, but DR type is unchanged. Immunoglobulins are normal, antibody and in vitro proliferative response to injected antigen are present. This experience indicates that little thymic function is necessary for successful BMT, but does not determine whether there has been central or peripheral reconstitution.