Article
A novel mutant gammac chain from a patient with typical phenotype of X-linked severe combined immunodeficiency (SCID) has partial signalling function for mediating IL-2 and IL-4 receptor action.
Clinical and experimental immunology - 1 Feb 1999
Kumaki S, Ochs H D, Kuropatwinski K K, Konno T, Timour M S, Cosman D, Baumann H
Abstract excerpt
Mutations of the common gamma (gammac) chain result in X-linked SCID (X-SCID), which is characterized by the reduction in number or absence of peripheral blood T cells and natural killer (NK) cells, with retention of normal numbers of B cells. In the present study we describe a novel mutant gammac chain of an X-SCID patient with a typical X-SCID phenotype. This mutant receptor subunit is able to associate with...
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