title: Development of autologous T lymphocytes in two males with X-linked severe combined immune deficiency: molecular and cellular characterization.
abstract: 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.
authors.affiliation: Department of Pediatrics, Istituto di Medicina Molecolare Angelo Nocivelli, University of Brescia, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Mella
authors.forename: L
authors.initials: L
authors.lastname: Imberti
authors.forename: D
authors.initials: D
authors.lastname: Brugnoni
authors.forename: S
authors.initials: S
authors.lastname: Pirovano
authors.forename: F
authors.initials: F
authors.lastname: Candotti
authors.forename: E
authors.initials: E
authors.lastname: Mazzolari
authors.forename: A
authors.initials: A
authors.lastname: Bettinardi
authors.forename: M
authors.initials: M
authors.lastname: Fiorini
authors.forename: D
authors.initials: D
authors.lastname: De Mattia
authors.forename: B
authors.initials: B
authors.lastname: Martire
authors.forename: A
authors.initials: A
authors.lastname: Plebani
authors.forename: L D
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: S
authors.initials: S
authors.lastname: Giliani
mesh_terms: D000293:Adolescent; D000943:Antigens, Differentiation; D017209:Apoptosis; D015329:Gene Rearrangement, T-Lymphocyte; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D053616:Janus Kinase 3; D019891:Leukopoiesis; D009154:Mutation; D010641:Phenotype; D011505:Protein-Tyrosine Kinases / Q000378:metabolism; D019253:Proto-Oncogene Proteins c-bcl-2; D015375:Receptors, Interleukin-2 / Q000235:genetics*; D016511:Severe Combined Immunodeficiency / Q000276:immunology*; D015398:Signal Transduction; D013601:T-Lymphocytes / Q000276:immunology*; D014960:X Chromosome
chemical_list: D000943:Antigens, Differentiation; D019253:Proto-Oncogene Proteins c-bcl-2; D015375:Receptors, Interleukin-2; D011505:Protein-Tyrosine Kinases; C507933:JAK3 protein, human; D053616:Janus Kinase 3