Adenosine Deaminase Deficiency and Purine Nucleoside Phosphorylase Deficiency in Common Variable Immunodeficiency

Author:

Fleischman Amy1,Hershfield Michael S.2,Toutain Stephan2,Lederman Howard M.1,Sullivan Kathleen E.3,Fasano Mary Beth4,Greene Jeff3,Winkelstein Jerry A.1

Affiliation:

1. Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland1;

2. Department of Medicine, The Duke University School of Medicine, Durham, North Carolina2; and

3. Department of Pediatrics, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania3; and

4. Department of Medicine, The Bowman Gray School of Medicine of Wake Forest University, Winston-Salem, North Carolina4

Abstract

ABSTRACT The clinical presentations of adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency are widely variable and include clinical and immunologic findings compatible with common variable immunodeficiency. The screening of 44 patients with common variable immunodeficiency failed to identify any individuals with deficiencies of these enzymes.

Publisher

American Society for Microbiology

Subject

Microbiology (medical),Clinical Biochemistry,Immunology,Immunology and Allergy

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