title: Purine nucleoside phosphorylase deficiency with fatal course in two sisters.
abstract: 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.
authors: Dr. Sami Ulus Children's Health and Diseases Training and Research Center, 06080 Ankara, Turkey. caneraytekin@yahoo.com
authors: Caner
authors: C
authors: Aytekin
authors: Figen
authors: F
authors: Dogu
authors: Gonul
authors: G
authors: Tanir
authors: Deniz
authors: D
authors: Guloglu
authors: Ines
authors: I
authors: Santisteban
authors: Michael S
authors: MS
authors: Hershfield
authors: Aydan
authors: A
authors: Ikinciogullari
mesh_terms: D002648:Child; D002675:Child, Preschool; D015209:Cholangitis, Sclerosing / Q000209:etiology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008100:Liver Abscess / Q000235:genetics; D009154:Mutation; D009163:Mycobacterium bovis; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency* / Q000235:genetics; D014376:Tuberculosis / Q000209:etiology
chemical_list: D011683:Purine-Nucleoside Phosphorylase