Abstract
Severe combined immune deficiency disease (SCID) represents a spectrum of disorders characterized by the inability to manifest normal cell-mediated and humoral immunity. Recognition and grouping of these variants of SCID are important in order to provide guidelines for investigation and to evaluate and select appropriate therapeutic modalities. In contrast to earlier suggestions that these patients manifest abnormalities of lymphoid stem cells, our studies have demonstrated T and B-cell precursor cells in the majority of SCID patients. We have used in vitro assays for monitoring the induction of T-cell differentiation and have characterized the responsiveness of patient precursor T-cells to specific induction regimens including contact with thymic epithelium, epithelium conditioned medium, thymosin and theophylline. In this way, we have identified different groups of patients with an arrest of T-cell differentiation at different stages of maturation. In most of the patients with normal adenosine deaminase, the combined immune deficiency could be shown to reflect the failure of normal T-cell differentiation and consequent failure of T-cell dependent maturation of B lymphocytes to an antibody-secreting stage, rather than intrinsic abnormalities of the B cells themselves. These data emphasize the thymic dependence of specific B-cell differentiation in man and demonstrate the functional integrity of B lymphocytes in many patients with SCID.
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Gelfand, E., Dosch, HM. 917 SEVERE COMBINED IMMUNE DEFICIENCY DISEASE – A T-CELL DISORDER. Pediatr Res 15 (Suppl 4), 595 (1981). https://doi.org/10.1203/00006450-198104001-00942
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DOI: https://doi.org/10.1203/00006450-198104001-00942