Development of autologous T lymphocytes in two males with X-linked severe combined immune deficiency: Molecular and cellular characterization

We report on two patients affected with severe combined immune deficiency ( SCID) with an unusual immunological phenotype and a substantial number of a utologous, poorly functioning T cells. Distinct mutations identified at the IL2RG locus in the two patients impaired IL-2-mediated signaling but affec ted T-cell lymphopoiesis differently, resulting in generation of a polyclon al or oligoclonal T-cell repertoire. These observations add to the growing complexity of the immunological spectrum of SCID in humans and indicate the need for detailed immunological and molecular investigations in atypical c ases. (C) 2000 Academic Press.