Abstract
A 20 month old male child was diagnosed as having adenosine deaminase (ADA) deficiency during N.Y. State-mandated neonatal screening. At age one month he had tonsils, a normal WBC and differential, a thymic shadow, and normal bony structures, despite confirmation of his enzyme defect on repeated testing (less than 1% of normal ADA and increased adenosine in RBC). Throughout his life he has had normal numbers and distribution of lymphocytes, normal responses to pokeweed mitogen, phytohem-agglutinin, and Con A, and a normal mixed lymphocyte reaction. Following immunization he developed antibody and/or positive in vitro responses to diptheria, tetanus, and polio antigens. Skin tests with DNCB and diptheria toxoid yielded delayed hypersensitivity responses. Except for accentuated transient physiologic hypogammaglobulinemia, he has had normal immunoglobulins and complement. Except for several brief episodes of otitis media and an upper respiratory infection his general health has been excellent, and his growth and development have been normal.
Genetic heterogeneity for ADA deficiency may account for the spectrum of clinical manifestations, ranging from Severe Combined Immunodeficiency to normal immunologic function.
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Borkowsky, W., Gershon, A. & Hirschhorn, R. 687 ADENOSINE DEAMINASE DEFICIENICY WITHOUT IMMUNODEFICIENCY. Pediatr Res 12 (Suppl 4), 478 (1978). https://doi.org/10.1203/00006450-197804001-00692
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DOI: https://doi.org/10.1203/00006450-197804001-00692
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