Familial Defect in the Surface Expression of the T-Cell Receptor–CD3 Complex

Abstract

INFANTS with severe combined immunodeficiency usually become ill in the first few months of life.¹ Although growth and development proceed normally for a few months, length and weight gain cease, and failure to thrive becomes a striking feature of the disorder.¹ Most affected infants have profound lymphopenia with a specific deficiency in the mature T-cell subset. Although patients with severe combined immunodeficiency share a common clinical picture, the underlying T-cell deficit is heterogeneous. One subtype of severe combined immunodeficiency is associated with the absence of the development of thymocytes that express any thymus-specific antigens (CD3, CD4, CD6, and CD8). In . . .