title: A girl with diabetes and severe combined immunodeficiency from adenosine deaminase deficiency.
abstract: 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.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Second University of Naples, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Stoppoloni
authors.forename: D
authors.initials: D
authors.lastname: Iafusco
authors.forename: B M
authors.initials: BM
authors.lastname: Amodeo
authors.forename: E
authors.initials: E
authors.lastname: De Felice
authors.forename: R
authors.initials: R
authors.lastname: Toraldo
authors.forename: C
authors.initials: C
authors.lastname: Betterle
authors.forename: L D
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: G
authors.initials: G
authors.lastname: Tosi
authors.forename: R S
authors.initials: RS
authors.lastname: Accolla
authors.forename: F
authors.initials: F
authors.lastname: Prisco
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency / Q000235:genetics / Q000627:therapeutic use; D001323:Autoantibodies / Q000097:blood; D002648:Child; D003922:Diabetes Mellitus, Type 1 / Q000150:complications* / Q000276:immunology; D005260:Female; D018014:Gene Transfer Techniques; D015316:Genetic Therapy; D006683:HLA-DQ Antigens / Q000032:analysis; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; D006650:Histocompatibility Testing; D006801:Humans; D016511:Severe Combined Immunodeficiency / Q000209:etiology*
chemical_list: D001323:Autoantibodies; D006683:HLA-DQ Antigens; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; C069050:HLA-DQA1 antigen; C057615:HLA-DQbeta antigen; D000243:Adenosine Deaminase; C051409:pegademase bovine