Adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency in common variable immunodeficiency.
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.
Fleischman
A
A
Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Hershfield
M S
MS
Toutain
S
S
Lederman
H M
HM
Sullivan
K E
KE
Fasano
M B
MB
Greene
J
J
Winkelstein
J A
JA
D000243:Adenosine Deaminase / Q000172:deficiency* / Q000378:metabolism; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D017074:Common Variable Immunodeficiency / Q000201:enzymology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency* / Q000378:metabolism
D011683:Purine-Nucleoside Phosphorylase; D000243:Adenosine Deaminase