Abstract
Purine nucleoside phosphorylase (PNP) deficiency results in severe immune dysfunction and early death from infections. Lymphopenia, reduced serum uric acid, and abnormal PNP enzymatic activity assist in the diagnosis of PNP-deficient patients. Analysis of the gene encoding PNP in these patients reveals several recurring mutations. Identification of these hot-spots for mutation may allow faster confirmation of the diagnosis in suspected cases.
MeSH terms
-
CpG Islands
-
DNA, Complementary / metabolism
-
Escherichia coli / metabolism
-
Exons
-
Humans
-
Immunologic Deficiency Syndromes / genetics*
-
Lymphopenia / genetics*
-
Mutation*
-
Mutation, Missense
-
Polyethylene Glycols / metabolism
-
Polymerase Chain Reaction
-
Purine-Nucleoside Phosphorylase / deficiency*
-
Purine-Nucleoside Phosphorylase / genetics*
-
Purine-Pyrimidine Metabolism, Inborn Errors / genetics
-
Sequence Analysis, DNA
-
Uric Acid / blood*
-
Uric Acid / metabolism
Substances
-
DNA, Complementary
-
Uric Acid
-
Polyethylene Glycols
-
Purine-Nucleoside Phosphorylase