Abstract
Reticular dysgenesis is a rare syndrome characterized by combined immunodeficiency and neutropenia. We have cared for a child, whose sister died of overwhelming sepsis at 2 months of age, who was referred for neutropenia. Further work-up revealed a severe combined immunodeficiency. The patient had evidence of excessive suppressor cell activity as detected in both mixed lymphocyte cultures and an assay designed to measure in vitro immunoglobulin synthesis. He had circulating T cells that bore the maternal HLA haplotype. He was treated without pre-transplant immunosuppression by allogenic marrow transplantation from his histocompatible 5 yr old nonaffected sister. Within one week the maternal T cell haplotype was no longer detectable. Excessive suppressor cell activity was not detectable by 3 weeks. There was significant improvement in his immune function as early as one month (PHA stimulation index 2.7 → 143; serum IgG 134 mg/dl → 512 mg/dl). However the patient has remained neutropenic with a maximum neutrophil count of 0.3 × 109/1. Cytogenetic analysis revealed an xx karotype in peripheral blood and an xy karotype in marrow chromosomes. Six months post transplant he is developing normally without infection. Marrow transplantation without preparation can restore immune function but additional immunosuppression may be necessary for complete myeloid reconstitution.
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Herrod, H., Turner, V., Johnson, F. et al. MARROW TRANSPLANTATION FOR RETICULAR DYSGENESIS RESULTING IN IMMUNOLOGIC RECONSTITUTION WITHOUT MYELOID RECONSTITUTION. Pediatr Res 18 (Suppl 4), 256 (1984). https://doi.org/10.1203/00006450-198404001-00981
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DOI: https://doi.org/10.1203/00006450-198404001-00981