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Previous Volume 334:1367-1372 May 23, 1996 Number 21 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

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Complete deficiency of adenosine deaminase causes severe combined immunodeficiency that is inherited as an autosomal recessive trait. The patients present in infancy with recurrent infections, lymphopenia, defective proliferative responses to mitogens, hypogammaglobulinemia, and an inability to mount specific antibody responses. Patients with a low level of residual adenosine deaminase activity have a later onset of clinical disease owing to a slower and sometimes less complete loss of immune function.^1,2,3

Unlike other primary immunodeficiencies caused by defects in lymphocyte signaling pathways,⁴ adenosine deaminase deficiency is a systemic metabolic disorder. The enzymatic defect is expressed in all cells, and therefore the substrates . . . [Full Text of this Article]

Case Report

Methods

Results

Discussion

Source Information

From the Eudowood Division of Pediatric Immunology (M.E.B., H.M.L.) and the Division of Pediatric Gastroenterology (K.S.), Johns Hopkins University School of Medicine, Baltimore; and the Departments of Medicine (F.X.A.-V., I.S., M.S.H.) and Biochemistry (M.S.H.), Duke University School of Medicine, Durham, N.C.

Address reprint requests to Dr. Bollinger at the Eudowood Division of Pediatric Immunology, Johns Hopkins Hospital, CMSC 1102, 600 N. Wolfe St., Baltimore, MD 21287-3923.

References

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• Ariga, T., Oda, N., Sanstisteban, I., Arredondo-Vega, F. X., Shioda, M., Ueno, H., Terada, K., Kobayashi, K., Hershfield, M. S., Sakiyama, Y. (2001). Molecular Basis for Paradoxical Carriers of Adenosine Deaminase (ADA) Deficiency That Show Extremely Low Levels of ADA Activity in Peripheral Blood Cells Without Immunodeficiency. J. Immunol. 166: 1698-1702 [Abstract] [Full Text]  
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• Blackburn, M. R., Datta, S. K., Kellems, R. E. (1998). Adenosine Deaminase-deficient Mice Generated Using a Two-stage Genetic Engineering Strategy Exhibit a Combined Immunodeficiency. J. Biol. Chem. 273: 5093-5100 [Abstract] [Full Text]  
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