title: Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections.
abstract: Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disease. The characteristic features of the disease include severe T cell immune defects with recurrent infections, a failure to thrive, and progressive neurological findings. To date, 35 cases of purine nucleosidase phosphorylase deficiency have been reported worldwide. A 2-year-old female patient was hospitalized due to recurrent infections starting from 6 months and a fever that had continued for a month. The parents were first cousins. Physical examination showed a failure to thrive, herpetic lesions around the lips, painful lesions on the tongue and the buccal mucosa, lung infection, and spastic paraparesis in the lower extremities. She had motor and mental retardation. Laboratory tests revealed lymphopenia; low CD3, CD4, and CD8 counts; normal immunoglobulin levels; low uric acid; and very low purine nucleoside phosphorylase enzyme activity (1.4 nmol/h/mg; normal range, 490-1530). DNA sequencing of the purine nucleosidase phosphorylase gene revealed a missense homozygous mutation, a G to A transition at exon 4 position 64 (349G>A transition), which led to a substitution of alanine by threonine at codon 117 (Ala117Thr). Both parents were heterozygous for the mutation. This is the second purine nucleosidase phosphorylase deficient case to have been presented and carrying this mutation worldwide. Various antibiotics, antifungal drugs, and intravenous immunoglobulin were used to treat the infections during her 3 months. This form of treatment proved to be unresponsive, resulting in her subsequent death at 26 months of age.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.
authors.forename: Ferda
authors.initials: F
authors.lastname: Ozkinay
authors.forename: Sacide
authors.initials: S
authors.lastname: Pehlivan
authors.forename: Huseyin
authors.initials: H
authors.lastname: Onay
authors.forename: Paul
authors.initials: P
authors.lastname: van den Berg
authors.forename: Fadil
authors.initials: F
authors.lastname: Vardar
authors.forename: Guldane
authors.initials: G
authors.lastname: Koturoglu
authors.forename: Guzide
authors.initials: G
authors.lastname: Aksu
authors.forename: Durisehvar
authors.initials: D
authors.lastname: Unal
authors.forename: Hasan
authors.initials: H
authors.lastname: Tekgul
authors.forename: Sema
authors.initials: S
authors.lastname: Can
authors.forename: Cihangir
authors.initials: C
authors.lastname: Ozkinay
mesh_terms: D000409:Alanine / Q000235:genetics; D015703:Antigens, CD / Q000378:metabolism; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons; D005260:Female; D006801:Humans; D008214:Lymphocytes / Q000378:metabolism; D009154:Mutation; D010264:Paraplegia / Q000235:genetics / Q000276:immunology / Q000378:metabolism* / Q000503:physiopathology; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency*; D013912:Threonine / Q000235:genetics
chemical_list: D015703:Antigens, CD; D013912:Threonine; D011683:Purine-Nucleoside Phosphorylase; D000409:Alanine