Purine Nucleoside Phosphorylase Deficiency: A Mutation Update

REFERENCES

• Giblett , E. R. , Ammann , A. J. , Wara , D. W. , Sandman , R. and Diamond , L. K. 1975 . Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity . The Lancet. , 305 : 1010 – 1013 .
   Web of Science ®Google Scholar
• Markert , M. L. 1991 . Purine nucleoside phosphorylase deficiency . Immunodefic. Rev. , 3 : 45 – 81 .
   PubMedGoogle Scholar
• Parvaneh , N. , Tabatabaei , P. , Pourakbari , B. , Tamizifar , B. , Mamishi , S. , Teimourian , S. , Badalzadeh , M. , Yeganeh , M. , Jacomelli , G. , Bertelli , M. , Zakharova , E. , Micheli , V. and Parvaneh , L. 2008 . Novel mutations of NP in two patients with purine nucleoside phosphorylase deficiency . Clin. Biochem. , 41 : 350 – 352 .
   PubMed Web of Science ®Google Scholar
• Simmonds , H. A. , Fairbanks , L. D. , Morris , G. S. , Morgan , G. , Watson , A. R. , Timms , P. and Singh , B. 1987 . Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency . Arch. Dis. Child. , 62 : 385 – 391 .
   PubMed Web of Science ®Google Scholar
• Timms , P. M. , Simmonds , H. A. and Bold , A. M. 1996 . Marked hypouricaemia in purine nucleoside phosphorylase deficiency-serendipitous finding on screening . Clin. Chem. , 42 : 985
   PubMedGoogle Scholar
• Sasaki , Y. , Iseki , M. , Yamaguchi , S. , Kurosawa , Y. , Yamamoto , T. , Moriwaki , Y. , Kenri , T. , Sasaki , T. and Yamashita , R. 1998 . Direct evidence of autosomal recessive inheritance of Arg24 to termination codon in purine nucleoside phosphorylase gene in a family with a severe combined immunodeficiency patient . Hum. Genet. , 103 : 81 – 85 .
   PubMed Web of Science ®Google Scholar
• Dalal , I. , Grunebaum , E. , Cohen , A. and Roifman , C. M. 2001 . Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient . Clin. Genet. , 59 : 430 – 437 .
   PubMed Web of Science ®Google Scholar
• Andrews , L. G. and Markert , M. L. 1992 . Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency . J. Biol. Chem. , 267 : 7834 – 7838 .
   PubMedGoogle Scholar
• Markert , M. L. , Finkel , B. D. , McLaughlin , T. M. , Watson , T. J. , Collard , H. R. , McMahon , C. P. , Andrews , L. G. , Barrett , M. J. and Ward , F. E. 1997 . Mutations in purine nucleoside phosphorylase deficiency . Hum. Mutat. , 9 : 118 – 121 .
   PubMedGoogle Scholar
• Williams , S. R. , Gekeler , V. , McIvor , R. S. and Martin , D. W. 1987 . A human purine nucleoside phosphorylase deficiency caused by a single base change . J. Biol. Chem. , 262 : 2332 – 2338 .
   PubMed Web of Science ®Google Scholar
• Grunebaum , E. , Zhang , J. and Roifman , C. M. 2004 . Novel mutations and Hot-Spots in patients with purine nucleoside phosphorylase deficiency . Nucleosides Nucleotides Nucleic Acids , 23 : 1411 – 1415 .
   PubMed Web of Science ®Google Scholar
• Aytekin , C. , Dogu , F. , Tanir , G. , Guloglu , D. , Santisteban , I. , Hershfield , M. S. and Ikinciogullari , A. 2010 . Purine nucleoside phosphorylase deficiency with fatal course in two sisters . Eur. J. Pediatr. , 169 : 311 – 314 .
   PubMedGoogle Scholar
• Fairbanks , L. D. , Gennery , A. R. , Marinaki , A. M. and Duley , J. A. 2003 . Purine nucleoside phosphorylase deficiency: Is there a mitochondrial pathology? . Joint 11th International and 9th European Symposium on Purines and Pyrimidines in Man . 2003 . Conference Abstract , pp. 29
   Google Scholar
• Aust , M. R. , Andrews , L. G. , Barrett , M. J. , Norby-Slycord , C. J. and Markert , M. L. 1992 . Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency . Am. J. Hum. Genet. , 51 : 763 – 772 .
   PubMed Web of Science ®Google Scholar
• Alangari , A. , Al-Harbi , A. , Al-Ghonaium , A. , Santisteban , I. and Hershfield , M. 2009 . Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients . Ann. Saudi. Med. , 29 : 309 – 312 .
   PubMed Web of Science ®Google Scholar
• Moallem , H. J. , Taningo , G. , Jiang , C. K. , Hirschhorn , R. and Fikrig , S. 2002 . Purine nucleoside phosphorylase deficiency: A new case report and identification of two novel mutations(Gly156A1a and Val217Ile), only one of which (Gly156A1a) is deleterious . Clin. Immunol. , 105 : 75 – 80 .
   PubMed Web of Science ®Google Scholar
• Al-Saud , B. , Alsmadi , O. , Al-Muhsen , S. , Al-Ghonaium , A. , Al-Dhekri , H. , Arnaout , R. , Hershfield , M. S. and Al-Mousa , H. 2009 . A novel mutation in purine nucleoside phosphorylase in a child with normal uric acid levels . Clin. Biochem. , 42 : 1725 – 1727 .
   PubMedGoogle Scholar
• Pannicke , U. , Tuchschmid , P. , Friedrich , W. , Bartram , C. R. and Schwarz , K. 1996 . Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient . Hum. Genet. , 98 : 706 – 709 .
   PubMed Web of Science ®Google Scholar