Article
Development of autologous T lymphocytes in two males with X-linked severe combined immune deficiency: molecular and cellular characterization.
Clinical immunology (Orlando, Fla.) - 1 Apr 2000
Mella P, Imberti L, Brugnoni D, Pirovano S, Candotti F, Mazzolari E, Bettinardi A, Fiorini M, De Mattia D, Martire B, Plebani A, Notarangelo L D, Giliani S
Abstract excerpt
We report on two patients affected with severe combined immune deficiency (SCID) with an unusual immunological phenotype and a substantial number of autologous, poorly functioning T cells. Distinct mutations identified at the IL2RG locus in the two patients impaired IL-2-mediated signaling but affected T-cell lymphopoiesis differently, resulting in generation of a polyclonal or oligoclonal T-cell repertoire....
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