92 research outputs found
Partial depletion of TCR alpha/beta+/ CD19+ cells in matched unrelated transplantation of three patients with osteopetrosis.
No full textIdentification of two novel mutations in adenosine deaminase gene with highly sensitive, fast and economical technique: denaturing high performance liquid chromatography
No full textA highly sensitive, fast and economical technique for mutation analysis in adenosine deaminase deficiency. Identification of two novel mutations.
No full textIdentificazione di due nuove mutazioni nel gene dell’adenosin deaminasi con metodo veloce, altamente sensibile ed economico: DHPLC (Denaturing High Performance Liquid Chromatography).
No full textBolda, Henry F. (Birth, 1875-02-12)
No full textAddress: 615 Race St.958/Pg. 93/1875/M W/Anna Bergman, Mid.Original record filed in drawer labeled 'BOIS-BONNER'
Banca di cordone dedicato per malattie genetiche: l’esperienza del centro di Brescia 1996-2008
No full textDenaturing high performance liquid chromatography (DHPLC) in diagnosis of adenosine diaminase deficiency: identification of two novel mutations
No full textLong-Lasting production of New T and B Cells and T-Cell Repertoire Diversity in Patients with Primary Immunodeficiency Who Had Undergone Stem Cell Transplantation : A Single-Centre Experience
No full textLevels of Kappa-deleting recombination excision circles (KRECs), T-cell receptor excision circles (TRECs), and T-cell repertoire diversity were evaluated in 1038 samples of 124 children with primary immunodeficiency, of whom 102 (54 with severe combined immunodeficiency and 48 with other types of immunodeficiency) underwent hematopoietic stem cell transplantation. Twenty-two not transplanted patients with primary immunodeficiency were used as controls. Only data of patients from whom at least five samples were sent to the clinical laboratory for routine monitoring of lymphocyte reconstitutions were included in the analysis. The mean time of the follow-up was 8 years. The long-lasting posttransplantation kinetics of KREC and TREC production occurred similarly in patients with severe combined immunodeficiency and with other types of immunodeficiency and, in both groups, the T-cell reconstitution was more efficient than in nontransplanted children. Although thymic output decreased in older transplanted patients, the degree of T-cell repertoire diversity, after an initial increase, remained stable during the observation period. However, the presence of graft-versus-host disease and ablative conditioning seemed to play a role in the time-related shaping of T-cell repertoire. Overall, our data suggest that long-term B- and T-cell reconstitution was equally achieved in children with severe combined immunodeficiency and with other types of primary immunodeficiency
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