A girl with Diabetes and severe Combined Immunodeficiency from Adenosine Deaminase Deficiency
| Autor: | F Prisco, E De Felice, Corrado Betterle, Rs Accolla, G. Tosi, Bm Amodeo, Dario Iafusco, G Stoppoloni, Ld Notarangelo, R. Toraldo |
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| Přispěvatelé: | Iafusco, D, Iafusco, Dario, BIANCA M., Amodeo, EUGENIO DE, Felice, Toraldo, Roberto, Corrado, Betterle, LUIGI D., Notarangelo, Giovanna, Tosi, ROBERTO S., ACCOLLA AND FRANCESCO PRISCO |
| Rok vydání: | 1997 |
| Předmět: |
endocrine system diseases
Adenosine Deaminase Endocrinology Diabetes and Metabolism Human leukocyte antigen HLA-DQ alpha-Chains Pathogenesis Endocrinology Adenosine deaminase immune system diseases HLA-DQ Antigens Diabetes mellitus medicine HLA-DQ beta-Chains Humans Allele Child Gene Autoantibodies Severe combined immunodeficiency biology business.industry Histocompatibility Testing Gene Transfer Techniques nutritional and metabolic diseases Genetic Therapy medicine.disease Adenosine deaminase deficiency Diabetes Mellitus Type 1 Pediatrics Perinatology and Child Health Immunology biology.protein Female Severe Combined Immunodeficiency business |
| Zdroj: | Scopus-Elsevier |
| Popis: | We present a girl with severe combined immunodeficiency (SCID) from adenosine deaminase (ADA) deficiency who developed insulin dependent diabetes mellitus (IDDM). This combination of features has not been previously reported. Because HLA typing (DQbeta-57 Asp/Asp and DQalpha-52 Ser/Ser) showed no alleles usually associated with IDDM, and ICA were repeatedly negative even after treatment with PEG-ADA and gene transplant, hypotheses on the pathogenesis of diabetes mellitus in this patient are discussed. |
| Databáze: | OpenAIRE |
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