Partial Adenosine Deaminase Deficiency in an Immunodeficient Child

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Abstract
We report a child with partial adenosine deaminase (ADA) deficiency who in infancy had clinical features suggestive of the hyperimmunoglobulinemia E syndrome (HIE), including recurrent staphylococcal cutaneous abscesses and pneumonia, atopic dermatitis, and sinusitis associated with lymphopenia, eosinophilia, and an elevated IgE of 16,400 IU/ml. No ADA activity was found in his erythrocytes, and 15% of normal activity was found in his lymphocytes. Immunologic evaluation showed no evidence of delayed hypersensitivity, normal in vitro lymphocyte blastogenesis response to mitogen, decreased helper/suppressor T cell ratios, and decreased IgG2 levels with elevated total IgG, IgM, and IgA. He had low isohemagglutinin titers, no antibody response to tetanus toxoid, and a nonprotective level of antibodies to Haemophilus influenzae type b and pneumococcus at the age of 68 months. Because of the family's religious faith, immunologic treatment with blood products was not permitted. After 3 years of age, the clinical features of HIE syndrome resolved despite a persistent elevation of IgE and a low CD4 lymphocyte count. This report describes a previously unreported immunodeficiency in association with partial ADA deficiency.