A GIRL WITH DIABETES AND SEVERE COMBINED IMMUNODEFICIENCY FROM ADENOSINE-DEAMINASE DEFICIENCY

Authors
STOPPOLONI G IAFUSCO D AMODEO BM DEFELICE E TORALDO R BETTERLE C NOTARANGELO LD TOSI G ACCOLLA RS PRISCO F
Citation
G. Stoppoloni et al., A GIRL WITH DIABETES AND SEVERE COMBINED IMMUNODEFICIENCY FROM ADENOSINE-DEAMINASE DEFICIENCY, Journal of pediatric endocrinology & metabolism, 10(4), 1997, pp. 425-428
Citations number
18
Categorie Soggetti
Pediatrics,"Endocrynology & Metabolism
Journal title
Journal of pediatric endocrinology & metabolism → ACNP
ISSN journal
0334018X
Volume
10
Issue
4
Year of publication
1997
Pages
425 - 428
Database
ISI
SICI code
0334-018X(1997)10:4<425:AGWDAS>2.0.ZU;2-D
Abstract
We present a girl with severe combined immunodeficiency (SCID) from ad enosine deaminase (ADA) deficiency who developed insulin dependent dia betes mellitus (IDDM). This combination of features has not been previ ously reported. Because HLA typing (DQbeta-57 Asp/Asp and DQalpha-52 S er/Ser) showed no alleles usually associated with IDDM, and ICA were r epeatedly negative even after treatment with PEG-ADA and gene transpla nt, hypotheses on the pathogenesis of diabetes mellitus in this patien t are discussed.