The Journal of Pediatrics
Volume 145, Issue 5 , Pages 710-712 , November 2004

Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: Successful correction with umbilical cord blood transplantation

Received 12 December 2003 ,Revised 4 May 2004 ,Accepted 29 June 2004.

References 

  1. Markert ML. Purine nucleoside phosphorylase deficiency. Immunodefic Rev. 1991;3:45–81
  2. Osborne WR, Ochs HD. Immunodeficiency disease due to deficiency of purine nucleoside phosphorylase. In:  Ochs HD,  Smith CIE,  Puck JM editor. Primary immunodeficiency diseases. A molecular and genetic approach. New York: Oxford University Press; 1999;p. 140–145
  3. Hershfield MS. Combined immune deficiencies due to purine enzyme defects. In:  Stiehm ER,  Ochs HD,  Winkelstein J editor. Immunologic disorders in infants and children. 5th ed.. Philadelphia: WB Saunders; 2003;In press
  4. Giblett ER, Ammann AJ, Wara DW, Sandman R, Diamond LK. Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity. Lancet. 1975;1:1010–1013
  5. Primary immunodeficiency diseases. Report of a WHO Scientific Group. Clin Exp Biol. 1995;99(Suppl 1):1–24
  6. Cunningham-Rundles C. Clinical and immunologic analyses of 103 patients with common variable immunodeficiency. J Clin Immunol. 1989;9:22–33
  7. Boder E, Sedgwick RP. Ataxia telangiectasia: a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia, and frequent pulmonary infection. Pediatrics. 1958;21:526–554
  8. McKinney RE, Katz SL, Wilfert CM. Chronic enteroviral meningoencephalitis in agammaglobulinemic patients. Rev Infect Dis. 1987;9:334–356
  9. Hershfield M, Mitchell BS. Immunodeficiency diseases caused by adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency. In:  Scriver CR,  Beaudet AL,  Sly WS,  Valle D editor. The metabolic and molecular bases of inherited disease. 8th ed.. New York: McGraw-Hill; 2001;p. 2585–2625
  10. Osborne WR, Scott CR. The metabolism of deoxyguanosine and guanosine in human B and T lymphoblasts: a role for deoxyguanosine kinase activity in the selective T-cell defect associated with purine nucleoside phosphorylase deficiency. Biochem J. 1983;214:711–718
  11. Arpaia E, Benveniste P, Di Cristofano A, Gu Y, Dalal I, Kelly S, et al. Mitochondrial basis for immune deficiency: evidence from purine nucleoside phosphorylase-deficient mice. J Exp Med. 2000;191:2197–2208
  12. Simmonds HA, Fairbanks LD, Morris GS, Morgan G, Watson AR, Timms P, et al. Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency. Arch Dis Child. 1987;62:385–391
  13. Altman PL. Blood leukocyte values: man. In:  Dittmer DS editors. Blood and other body fluids. Washington, DC: Federation of American Societies for Experimental Biology; 1961;p. 125–126
  14. Broome CB, Graham ML, Saulsbury FT, Hershfield MS, Buckley RH. Correction of purine nucleoside phosphorylase deficiency by transplantation of allogeneic bone marrow from a sibling. J Pediatr. 1996;128:373–376
  15. Carpenter PA, Ziegler JB, Vowels MR. Late diagnosis and correction of purine nucleoside phosphorylase deficiency with allogeneic bone marrow transplantation. Bone Marrow Transplant. 1996;17:121–124
  16. Baguette C, Vermylen C, Brichard B, Louis J, Dahan K, Vincent MF, et al. Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency. J Pediatr Hematol Oncol. 2002;24:69–71
  17. Classen CF, Schulz AS, Sigl-Kraetzig M, Hoffmann GF, Simmonds HA, Fairbanks L, et al. Successful HLA-identical bone marrow transplantation in a patient with PNP deficiency using busulfan and fludarabine for conditioning. Bone Marrow Transplant. 2001;28:93–96

 Supported by NIH Grant DK 20902 and a grant from Enzon, Inc.No authors have any financial arrangement with a company whose product figures prominently in the submitted manuscript or with a company making a competing product.

PII: S0022-3476(04)00641-9

doi: 10.1016/j.jpeds.2004.06.075

The Journal of Pediatrics
Volume 145, Issue 5 , Pages 710-712 , November 2004

Article Tools

* Image Usage & Resolution