Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency

Immunologic Research

Volumn 56, Issue 1, 2013, Pages 150-154

  Somech, Raz ^a   Lev, Atar ^a   Grisaru Soen, Galia ^a   Shiran, Shelly I ^a   Simon, Amos J ^a   Grunebaum, Eyal ^b  

^a TEL AVIV UNIVERSITY   (Israel)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Immunodeficiency; KREC; PNP; Purine nucleoside phosphorylase; SCID; TREC

Indexed keywords

ALANINE AMINOTRANSFERASE; ANTIBIOTIC AGENT; ANTIFUNGAL AGENT; ASPARTATE AMINOTRANSFERASE; C REACTIVE PROTEIN; GANCICLOVIR; T LYMPHOCYTE RECEPTOR; URIC ACID;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; ALLELE; ANTIBIOTIC THERAPY; ANTIVIRAL THERAPY; ARAB; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; B LYMPHOCYTE DEFICIENCY; BRAIN ATROPHY; CASE REPORT; CD3+ T LYMPHOCYTE; CD4+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CYTOMEGALOVIRUS INFECTION; ERYTHROCYTE; EXON; FEMALE; FEVER; FLOW CYTOMETRY; GENE MUTATION; HOMOZYGOTE; HUMAN; HYDROCEPHALUS; INFANT; LIVER FAILURE; LUNG LAVAGE; LYMPH NODE; LYMPHOCYTE DEPLETION; MITOGENICITY; MUSCLE HYPOTONIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIPHERAL BLOOD MONONUCLEAR CELL; PERIPHERAL LYMPHOCYTE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY; RESPIRATORY DISTRESS; RESPIRATORY FAILURE; SEVERE COMBINED IMMUNODEFICIENCY; STOP CODON; T CELL DEPLETION; THRUSH; TONSIL; WESTERN BLOTTING;

B-LYMPHOCYTES; C-REACTIVE PROTEIN; CANDIDIASIS, ORAL; CONSANGUINITY; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; LYMPH NODES; LYMPHOCYTE ACTIVATION; MUTATION; PALATINE TONSIL; PROTEIN SPLICING; PURINE-NUCLEOSIDE PHOSPHORYLASE; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS; RECEPTORS, ANTIGEN, T-CELL; RESPIRATORY DISTRESS SYNDROME, ADULT; SEVERE COMBINED IMMUNODEFICIENCY; T-LYMPHOCYTES;

EID: 84876414425     PISSN: 0257277X     EISSN: 15590755     Source Type: Journal    
DOI: 10.1007/s12026-012-8380-9     Document Type: Article

References (19)

1. Roifman CM, Somech R, Kavadas F, Pires L, Nahum A, Dalal I, Grunebaum E. Defining combined immunodeficiency. J Allergy Clin Immunol. 2012;130:177-83.
2. Borte S, von Döbeln U, Fasth A, Wang N, Janzi M, Winiarski J, Sack U, Pan-Hammarström Q, Borte M, Hammarström L. Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR. Blood. 2012;119:2552-5.
3. Aust MR, Andrews LG, Barrett MJ, Norby-Slycord CJ, Markert ML. Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. Am J Hum Genet. 1992;51:763-72.
4. Dror Y, Grunebaum E, Hitzler J, Narendran A, Ye C, Tellier R, Edwards V, Freedman MH, Roifman CM. Purine nucleoside phosphorylase deficiency associated with a dysplastic marrow morphology. Pediatr Res. 2004;55:472-7.
5. Somech R, Lev A, Simon AJ, Hanna S, Etzioni A. T- and B-cell defects in a novel purine nucleoside phosphorylase mutation. J Allergy Clin Immunol. 2012;130:539-42.
6. Markert ML. Purine nucleoside phosphorylase deficiency. Immunodefic Rev. 1991;3(1):45-81.
7. Lev A, Simon AJ, Bareket M, Bielorai B, Hutt D, Amariglio N, Rechavi G, Somech R. The kinetics of early T and B cell immune recovery after bone marrow transplantation in RAG-2-deficient SCID patients. PLoS ONE. 2012;7(1):e30494.
8. Dalal I, Grunebaum E, Cohen A, Roifman CM. Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient. Clin Genet. 2001;59:430-7.
9. Parvaneh N, Teimourian S, Jacomelli G, Badalzadeh M, Bertelli M, Zakharova E, Tabatabaei P, Parvaneh L, Pourakbari B, Yeganeh M, Tamizifar B, Mamishi S, Micheli V. Novel mutations of NP in two patients with purine nucleoside phosphorylase deficiency. Clin Biochem. 2008;41:350-2.
10. Micheli V, Camici M, Tozzi MG, Ipata PL, Sestini S, Bertelli M, Pompucci G. Neurological disorders of purine and pyrimidine metabolism. Curr Top Med Chem. 2011;11:923-47.
11. Moallem HJ, Taningo G, Jiang CK, Hirschhorn R, Fikrig S. 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. 2002;105:75-80.
12. Al-Saud B, Alsmadi O, Al-Muhsen S, Al-Ghonaium A, Al-Dhekri H, Arnaout R, Hershfield MS, Al-Mousa H. A novel mutation in purine nucleoside phosphorylase in a child with normal uric acid levels. Clin Biochem. 2009;42:1725-7.
13. Tam DA Jr, Leshner RT. Stroke in purine nucleoside phosphorylase deficiency. Pediatr Neurol. 1995;12:146-8.
14. Parvaneh N, Ashrafi MR, Yeganeh M, Pouladi N, Sayarifar F, Parvaneh L. Progressive multifocal leukoencephalopathy in purine nucleoside phosphorylase deficiency. Brain Dev. 2007;29:124-6.
15. Tabarki B, Yacoub M, Tlili K, Trabelsi A, Dogui M, Essoussi AS. Familial spastic paraplegia as the presenting manifestation in patients with purine nucleoside phosphorylase deficiency. J Child Neurol. 2003;18:140-1.
16. Mansouri A, Min W, Cole CJ, Josselyn SA, Henderson JT, van Eede M, Henkelman RM, Ackerley C, Grunebaum E, Roifman CM. Cerebellar abnormalities in purine nucleoside phosphorylase deficient mice. Neurobiol Dis. 2012;47:201-9.
17. Walker PL, Corrigan A, Arenas M, Escuredo E, Fairbanks L, Marinaki A. Purine nucleoside phosphorylase deficiency: a mutation update. Nucleosides, Nucleotides Nucleic Acids. 2011;30:1243-7.
18. Markert ML, Finkel BD, McLaughlin TM, Watson TJ, Collard HR, McMahon CP, Andrews LG, Barrett MJ, Ward FE. Mutations in purine nucleoside phosphorylase deficiency. Hum Mutat. 1997;9:118-21.
19. 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(3):373-6.