Insulin-dependent diabetes mellitus and severe atopic dermatitis in a child with adenosine deaminase deficiency

LD Notarangelo, G Stoppoloni, R Toraldo… - European journal of …, 1992 - Springer
LD Notarangelo, G Stoppoloni, R Toraldo, E Mazzolari, A Coletta, P Airo, C Bordignon…
European journal of pediatrics, 1992Springer
Abstract We report a 2.3-year-old girl with complete lack of adenosine deaminase (ADA)
activity who presented with severe atopic dermatitis and insulin-dependent diabetes mellitus
but only mild recurrent infections. Abnormalities of immune function included profound
depletion of CD8+ lymphocytes, hyperimmunoglobulinaemia E, and very low in vitro
proliferative response to mitogens. Treatment with polyethylene glycol-conjugated ADA was
followed by rapid amelioration of clinical and immunological conditions. The immunological …
Abstract
We report a 2.3-year-old girl with complete lack of adenosine deaminase (ADA) activity who presented with severe atopic dermatitis and insulin-dependent diabetes mellitus but only mild recurrent infections. Abnormalities of immune function included profound depletion of CD8+ lymphocytes, hyperimmunoglobulinaemia E, and very low in vitro proliferative response to mitogens. Treatment with polyethylene glycol-conjugated ADA was followed by rapid amelioration of clinical and immunological conditions. The immunological and clinical features of this child suggest that the clinical spectrum of ADA deficiency may be broader than originally supposed.
Springer