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Purine nucleoside phosphorylase deficiency with fatal course in two sisters. 2010

Caner Aytekin, and Figen Dogu, and Gonul Tanir, and Deniz Guloglu, and Ines Santisteban, and Michael S Hershfield, and Aydan Ikinciogullari
Dr. Sami Ulus Children's Health and Diseases Training and Research Center, 06080 Ankara, Turkey. caneraytekin@yahoo.com

Purine nucleoside phosphorylase (PNP) deficiency is a rare combined immunodeficiency disorder presenting with clinically recurrent infections, failure to thrive, various neurological disorders, malignancies, and autoimmune diseases. Here, we report two sisters with a fatal course of PNP deficiency due to delay in diagnosis. The first patient developed a liver abscess by Aspergillus fumigatus and the second patient developed Mycobacterium tuberculosis complex lymphadenitis and probable pulmonary tuberculosis due to disseminated BCG infection. The patients also suffered from sclerosing cholangitis. Mutation analysis of the PNP gene from both sisters revealed a homozygous mutation for a G>A at nucleotide 349 (349 G>A transition), which changes alanine 117 to theronine in exon 4 (A117T). An increased awareness of early signs, symptoms, and abnormal laboratory findings of PNP deficiency will establish the early prognosis and treatment.

UI MeSH Term Description Entries
D008100 Liver Abscess Solitary or multiple collections of PUS within the liver as a result of infection by bacteria, protozoa, or other agents. Abscess, Hepatic,Abscess, Liver,Abscesses, Hepatic,Abscesses, Liver,Hepatic Abscess,Hepatic Abscesses,Liver Abscesses
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D009163 Mycobacterium bovis The bovine variety of the tubercle bacillus. It is called also Mycobacterium tuberculosis var. bovis. BCG,Calmette-Guerin Bacillus
D011683 Purine-Nucleoside Phosphorylase An enzyme that catalyzes the reaction between a purine nucleoside and orthophosphate to form a free purine plus ribose-5-phosphate. EC 2.4.2.1. Inosine Phosphorylase,Nicotinamide Riboside Phosphorylase,Purine Nucleoside Phosphorylases,Nucleoside Phosphorylases, Purine,Phosphorylase, Inosine,Phosphorylase, Nicotinamide Riboside,Phosphorylase, Purine-Nucleoside,Phosphorylases, Purine Nucleoside,Purine Nucleoside Phosphorylase,Riboside Phosphorylase, Nicotinamide
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014376 Tuberculosis Any of the infectious diseases of man and other animals caused by species of MYCOBACTERIUM TUBERCULOSIS. Koch's Disease,Kochs Disease,Mycobacterium tuberculosis Infection,Infection, Mycobacterium tuberculosis,Infections, Mycobacterium tuberculosis,Koch Disease,Mycobacterium tuberculosis Infections,Tuberculoses
D015209 Cholangitis, Sclerosing Chronic inflammatory disease of the BILIARY TRACT. It is characterized by fibrosis and hardening of the intrahepatic and extrahepatic biliary ductal systems leading to bile duct strictures, CHOLESTASIS, and eventual BILIARY CIRRHOSIS. Cholangiitis, Sclerosing,Cholangitis, Primary Sclerosing,Primary Sclerosing Cholangitis,Sclerosing Cholangitis,Cholangiitides, Sclerosing,Cholangitides, Primary Sclerosing,Cholangitides, Sclerosing,Primary Sclerosing Cholangitides,Sclerosing Cholangiitides,Sclerosing Cholangiitis,Sclerosing Cholangitides,Sclerosing Cholangitides, Primary,Sclerosing Cholangitis, Primary

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