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

P Mella1, L Imberti, D Brugnoni

  • 1Department of Pediatrics, Istituto di Medicina Molecolare Angelo Nocivelli, University of Brescia, Italy.

Clinical Immunology (Orlando, Fla.)
|May 4, 2000
PubMed

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. 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 cases.

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