Abstract
SCID Is a heterogeneous disease caused by at least two known primary defects; specific enzyme deficiency or a defect in thymic epithelial cell maturation. A 12 nonth old male presented with a 7 month history of recurrent fevers, pyogenic infections, and documented Pneumocystis carinii pneumonia. Examination revealed hyperplastic lymphoid tissue. Laboratory data included normal red cell enzymes, normal lymphocyte numbers, profound hypogammaglobulinemia (except for an IgM of 22-47 mg%), no antibody response, but normal numbers of B-cells. 9-15% of his peripheral blood lymphocytes formed E-rosettes; both his PHA and MLR responses were markedly reduced (10% of normal). He did not respond to several skin test antigens or DNCB, and he failed to reject an allogeneic skin graft. Lymph node biopsy demonstrated normal follicle formation, poor germinal center formation, and depletion of cells in the paracortex. Thymus biopsy revealed a large thymus with predominantly E-rosetting cells, PAS-positive epithelial cells, but no Hassall's bodies. Unlike other SCID patients, bone marrow precursor cells were responsive normally to human thymus conditioned medium, suggesting the initial stage(s) of T-cell maturation were achieved in this patient. On the basis of the thymus biopsy and bone marrow precursor cell response, we believe this case of SCID represents a failure of terminal differentiation of intrathymic T-lymphocytes.
Supported by Medical Research Council of Canada (MA 4875)
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Shore, A., Dosch, HM., Huber, J. et al. IN VITRO AND IN VIVO DEFINITION OF A NEW VARIANT OF SEVERE COMBINED IMMUNODEFICIENCY DISEASE (SCID). Pediatr Res 11, 494 (1977). https://doi.org/10.1203/00006450-197704000-00745
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DOI: https://doi.org/10.1203/00006450-197704000-00745