Abstract
A previously unrecognized genetic immunologic disorder is reported. The patient a 13-year-old female, presented with recurrent viral and bacterial infections, eczema and acute allergic reactions. Humoral and cellular immunity were reduced, the serum IgG and IgM were low; IgD was normal; IgA and IgE were increased. She was lymphopenic, but her thymus appeared normal microscopically. In comparison to normal lymphocytes, her blood lymphocytes in culture did not suppress the life-span of PMNs. In those leukocyte cultures, the PMNs inhibited blastogenesis due to phytohemagglutinin, concanavalin A, pokeweed mitogen and antigens. However, in PMN-depleted cultures the relative frequency of blastogenesis became normal but lymphocyte survival and quantitative blastogenesis due to antigens and mitogens were reduced.
The parents' lymphocytes were unable to limit PMN survival in vitro and the relative frequency of transformation of their lymphocytes was reduced. However, the functions of their lymphocytes in PMN-depleted cultures seemed normal. These findings suggest that the principal defect in this disease is in the lymphocytes and that the propositus is homozygous for the defective gene, whereas, the asymptomatic carriers are heterozygous. Although this disorder resembles the Wiskott-Aldrich syndrome, the genetic aspect of the disease, the lack of thrombocytopenia, the low IgG and other features indicate that this is a previously undescribed primary immunologic disorder.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Goldman, A., Smith, C. & Dupree, E. Lymphopenia, dysgammaglobulinemia and decreased cellular immunity: A genetic lymphocyte defect. Pediatr Res 5, 378 (1971). https://doi.org/10.1203/00006450-197108000-00032
Issue Date:
DOI: https://doi.org/10.1203/00006450-197108000-00032