{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T22:27:26Z","timestamp":1790029646283,"version":"4.0.1"},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2019,11,9]],"date-time":"2019-11-09T00:00:00Z","timestamp":1573257600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2019,11,9]],"date-time":"2019-11-09T00:00:00Z","timestamp":1573257600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100003921","name":"Department of Health, Australian Government","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003921","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["DFG WA 1597\/4-2"],"award-info":[{"award-number":["DFG WA 1597\/4-2"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"published-print":{"date-parts":[[2020,1]]},"DOI":"10.1007\/s10875-019-00698-1","type":"journal-article","created":{"date-parts":[[2019,11,9]],"date-time":"2019-11-09T15:02:42Z","timestamp":1573311762000},"page":"123-130","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["The Broad Clinical Spectrum and Transplant Results of PNP Deficiency"],"prefix":"10.1007","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3332-2391","authenticated-orcid":false,"given":"Yael Dinur","family":"Schejter","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ehud","family":"Even-Or","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bella","family":"Shadur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adeeb","family":"NaserEddin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Polina","family":"Stepensky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Zaidman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,11,9]]},"reference":[{"key":"698_CR1","doi-asserted-by":"crossref","unstructured":"Madkaikar MR, Kulkarni S, Utage P, Fairbanks L, Ghosh K, Marinaki A, et al. Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India. BMJ Case Rep [Internet]. 2011;2011:bcr0920114804\u2013bcr0920114804. [cited 2019 Aug 24]. Available from: \nhttp:\/\/casereports.bmj.com\/cgi\/doi\/10.1136\/bcr.09.2011.4804","DOI":"10.1136\/bcr.09.2011.4804"},{"key":"698_CR2","doi-asserted-by":"crossref","unstructured":"Myers LA, Hershfield MS, Neale WT, Escolar M, Kurtzberg J. Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood transplantation. J Pediatr [Internet]. 2004;145:710\u20132. [cited 2019 Feb 25]. Available from: \nhttp:\/\/www.ncbi.nlm.nih.gov\/pubmed\/15520787","DOI":"10.1016\/j.jpeds.2004.06.075"},{"key":"698_CR3","doi-asserted-by":"crossref","unstructured":"Singh V. Cross correction following haemopoietic stem cell transplant for purine nucleoside phosphorylase deficiency: engrafted donor-derived white blood cells provide enzyme to residual enzyme-deficient recipient cells. JIMD Rep [Internet]. 2012. p. 39\u201342. [cited 2019 Feb 25]. Available from: \nhttp:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23430937","DOI":"10.1007\/8904_2012_126"},{"key":"698_CR4","doi-asserted-by":"crossref","unstructured":"Somech R, Lev A, Grisaru-Soen G, Shiran SI, Simon AJ, Grunebaum E. Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency. Immunol Res [Internet]. 2013;56:150\u20134. [cited 2019 Aug 24]. Available from: \nhttp:\/\/link.springer.com\/10.1007\/s12026-012-8380-9","DOI":"10.1007\/s12026-012-8380-9"},{"key":"698_CR5","doi-asserted-by":"crossref","unstructured":"Alangari A, Al-Harbi A, Al-Ghonaium A, Santisteban I, Hershfield M. Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients. Ann Saudi Med [Internet] 2019;29:309\u201312. [cited 2019 Apr 23]. Available from: \nhttp:\/\/www.ncbi.nlm.nih.gov\/pubmed\/19584574","DOI":"10.4103\/0256-4947.55320"},{"key":"698_CR6","doi-asserted-by":"crossref","unstructured":"Aytekin C, Yuksek M, Dogu F, Yagmurlu A, Yildiran A, Fitoz S, et al. An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication. Pediatr Transplant [Internet]. 2008;12:479\u201382. [cited 2019 Aug 24]. Available from: \nhttp:\/\/doi.wiley.com\/10.1111\/j.1399-3046.2007.00890.x","DOI":"10.1111\/j.1399-3046.2007.00890.x"},{"key":"698_CR7","doi-asserted-by":"crossref","unstructured":"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 [Internet]. 1996;128:373\u20136. [cited 2019 Apr 23]. Available from: \nhttp:\/\/www.ncbi.nlm.nih.gov\/pubmed\/8774508","DOI":"10.1016\/S0022-3476(96)70285-8"},{"key":"698_CR8","doi-asserted-by":"crossref","unstructured":"Celmeli F, Turkkahraman D, Uygun V, la Marca G, Hershfield M, Yesilipek A. A successful unrelated peripheral blood stem cell transplantation with reduced intensity-conditioning regimen in a patient with late-onset purine nucleoside phosphorylase deficiency. Pediatr Transplant [Internet]. 2015;19:E47-50. [cited 2019 Aug 24]. Available from: \nhttp:\/\/doi.wiley.com\/10.1111\/petr.12413","DOI":"10.1111\/petr.12413"},{"key":"698_CR9","doi-asserted-by":"crossref","unstructured":"Aytekin C, Dogu F, Tanir G, Guloglu D, Santisteban I, Hershfield MS, et al. Purine nucleoside phosphorylase deficiency with fatal course in two sisters. Eur J Pediatr [Internet]. 2010;169:311\u20134. [cited 2019 Aug 24]. Available from: \nhttp:\/\/link.springer.com\/10.1007\/s00431-009-1029-6","DOI":"10.1007\/s00431-009-1029-6"},{"key":"698_CR10","doi-asserted-by":"crossref","unstructured":"Yeates L, Slatter MA, Gennery AR. Infusion of sibling marrow in a patient with purine nucleoside phosphorylase deficiency leads to split mixed donor chimerism and normal immunity. Front Pediatr [Internet]. 2017;5:143. [cited 2019 Aug 24]. Available from: \nhttp:\/\/journal.frontiersin.org\/article\/10.3389\/fped.2017.00143\/full","DOI":"10.3389\/fped.2017.00143"},{"key":"698_CR11","doi-asserted-by":"crossref","unstructured":"Dror Y, Grunebaum E, Hitzler J, Narendran A, Ye C, Tellier R, et al. Purine nucleoside phosphorylase deficiency associated with a dysplastic marrow morphology. Pediatr Res [Internet]. 2004;55:472\u20137. [cited 2019 Aug 24]. Available from: \nhttp:\/\/www.nature.com\/doifinder\/10.1203\/01.PDR.0000111286.23110.F8","DOI":"10.1203\/01.PDR.0000111286.23110.F8"},{"key":"698_CR12","doi-asserted-by":"crossref","unstructured":"Dalal I, Grunebaum E, Cohen A, Roifman CM. Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient. Clin Genet [Internet]. 2001;59:430\u20137. [cited 2019 Apr 29]. Available from: \nhttp:\/\/www.ncbi.nlm.nih.gov\/pubmed\/11453975","DOI":"10.1034\/j.1399-0004.2001.590608.x"},{"key":"698_CR13","doi-asserted-by":"crossref","unstructured":"Gelfand EW, Dosch HM, Biggar WD, Fox IH. Partial purine nucleoside phosphorylase deficiency. Studies of lymphocyte function. J Clin Invest [Internet]. 1978;61:1071\u201380. [cited 2019 Apr 29]. Available from: \nhttp:\/\/www.jci.org\/articles\/view\/109006","DOI":"10.1172\/JCI109006"},{"key":"698_CR14","doi-asserted-by":"crossref","unstructured":"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 [Internet]. 2002;105:75\u201380. [cited 2019 Feb 25]. Available from: \nhttp:\/\/www.ncbi.nlm.nih.gov\/pubmed\/12483996","DOI":"10.1006\/clim.2002.5264"},{"key":"698_CR15","doi-asserted-by":"crossref","unstructured":"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 [Internet]. 2002;24:69\u201371. [cited 2019 Feb 25]. Available from: \nhttp:\/\/www.ncbi.nlm.nih.gov\/pubmed\/11902746","DOI":"10.1097\/00043426-200201000-00018"},{"key":"698_CR16","doi-asserted-by":"crossref","unstructured":"Brodszki N, Svensson M, van Kuilenburg ABP, Meijer J, Zoetekouw L, Truedsson L, et al. Novel genetic mutations in the first Swedish patient with purine nucleoside phosphorylase deficiency and clinical outcome after hematopoietic stem cell transplantation with HLA-matched unrelated donor. JIMD Rep [Internet]. 2015;24:83\u20139. [cited 2019 Aug 24]. Available from: \nhttp:\/\/link.springer.com\/10.1007\/8904_2015_444","DOI":"10.1007\/8904_2015_444"},{"key":"698_CR17","doi-asserted-by":"crossref","unstructured":"Dehkordy SF, Aghamohammadi A, Ochs HD, Rezaei N. Primary immunodeficiency diseases associated with neurologic manifestations. J Clin Immunol [Internet]. 2012;32:1\u201324. [cited 2019 Aug 24]. Available from: \nhttp:\/\/link.springer.com\/10.1007\/s10875-011-9593-8","DOI":"10.1007\/s10875-011-9593-8"},{"key":"698_CR18","doi-asserted-by":"crossref","unstructured":"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 [Internet]. 2001;28:93\u20136. [cited 2019 Apr 29]. Available from: \nhttp:\/\/www.nature.com\/articles\/1703100","DOI":"10.1038\/sj.bmt.1703100"},{"key":"698_CR19","doi-asserted-by":"crossref","unstructured":"Carson DA, Lakow E, Wasson DB, Kamatani N. Lymphocyte dysfunction caused by deficiencies in purine metabolism. Immunol Today [Internet]. 1981;2:234\u20138. [cited 2019 Apr 1]. Available from: \nhttps:\/\/linkinghub.elsevier.com\/retrieve\/pii\/0167569981900104","DOI":"10.1016\/0167-5699(81)90010-4"},{"key":"698_CR20","doi-asserted-by":"crossref","unstructured":"Ullman B, Gudas LJ, Clift SM, Martin DW. Isolation and characterization of purine-nucleoside phosphorylase-deficient T-lymphoma cells and secondary mutants with altered ribonucleotide reductase: genetic model for immunodeficiency disease. Proc Natl Acad Sci U S A [Internet]. 1979;76:1074\u20138. [cited 2019 Apr 1]. Available from: \nhttp:\/\/www.ncbi.nlm.nih.gov\/pubmed\/108675","DOI":"10.1073\/pnas.76.3.1074"},{"key":"698_CR21","doi-asserted-by":"crossref","unstructured":"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 [Internet]. 2000;191:2197\u2013208. [cited 2019 Feb 25]. Available from: \nhttp:\/\/www.ncbi.nlm.nih.gov\/pubmed\/10859343","DOI":"10.1084\/jem.191.12.2197"},{"key":"698_CR22","doi-asserted-by":"publisher","unstructured":"Papinazath T, Min W, Sujiththa S, Cohen A. Effects of purine nucleoside phosphorylase deficiency on thymocyte development. J Allergy Clin Immunol [Internet]. 2011;128:854-63 \nhttps:\/\/doi.org\/10.1016\/j.jaci.2011.07.039","DOI":"10.1016\/j.jaci.2011.07.039"},{"key":"698_CR23","doi-asserted-by":"crossref","unstructured":"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 [Internet]. 1987;62:385\u201391. [cited 2019 Apr 23]. Available from: \nhttp:\/\/www.ncbi.nlm.nih.gov\/pubmed\/2439024","DOI":"10.1136\/adc.62.4.385"},{"key":"698_CR24","doi-asserted-by":"crossref","unstructured":"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 [Internet]. 2012;130:539\u201342. [cited 2019 Apr 30]. Available from: \nhttps:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0091674912006033","DOI":"10.1016\/j.jaci.2012.03.038"},{"key":"698_CR25","doi-asserted-by":"crossref","unstructured":"Delicou S, Kitra-Roussou V, Peristeri J, Goussetis E, Vessalas G, Rigatou E, et al. Successful HLA-identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency. Pediatr Transplant [Internet]. 2007;11:799\u2013803. [cited 2019 Aug 24]. Available from: \nhttp:\/\/doi.wiley.com\/10.1111\/j.1399-3046.2007.00772.x","DOI":"10.1111\/j.1399-3046.2007.00772.x"},{"key":"698_CR26","doi-asserted-by":"crossref","unstructured":"Pannicke U, Tuchschmid P, Friedrich W, Bartram CR, \\. 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 [Internet]. 1996;98:706\u20139. [cited 2019 May 6]. Available from: \nhttp:\/\/www.ncbi.nlm.nih.gov\/pubmed\/8931706","DOI":"10.1007\/s004390050290"},{"key":"698_CR27","doi-asserted-by":"crossref","unstructured":"Isoyama K, Ohnuma K, Ikuta K, Toyoda Y, Nakajima F, Yamada K, et al. Unrelated cord blood transplantation for second hemopoietic stem cell transplantation. Pediatr Int [Internet]. 2003;45:268\u201374. [cited 2019 May 7]. Available from: \nhttp:\/\/www.ncbi.nlm.nih.gov\/pubmed\/12828579","DOI":"10.1046\/j.1442-200X.2003.01717.x"},{"key":"698_CR28","doi-asserted-by":"publisher","unstructured":"Al-saud B, Alsmadi O, Al-muhsen S, Al-ghonaium A, Al-dhekri H. Case Report A novel mutation in purine nucleoside phosphorylase in a child with normal uric acid levels. Clin Biochem [Internet]. The Canadian Society of Clinical Chemists; 2009;42:1725\u20137. Available from: \nhttps:\/\/doi.org\/10.1016\/j.clinbiochem.2009.08.017","DOI":"10.1016\/j.clinbiochem.2009.08.017"},{"key":"698_CR29","doi-asserted-by":"crossref","unstructured":"Worth AJJ, Houldcroft CJ, Booth C. Severe Epstein-Barr virus infection in primary immunodeficiency and the normal host. Br J Haematol [Internet]. 2016;175:559\u201376. [cited 2019 May 27]. Available from: \nhttp:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27748521","DOI":"10.1111\/bjh.14339"},{"key":"698_CR30","doi-asserted-by":"crossref","unstructured":"Shabani M, Nichols KE, Rezaei N. Primary immunodeficiencies associated with EBV-induced lymphoproliferative disorders. Crit Rev Oncol Hematol [Internet]. 2016;108:109\u201327. [cited 2019 May 27] Available from: \nhttp:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27931829","DOI":"10.1016\/j.critrevonc.2016.10.014"},{"key":"698_CR31","doi-asserted-by":"crossref","unstructured":"Cohen JI. Primary immunodeficiencies associated with EBV disease. Curr Top Microbiol Immunol [Internet]. 2015. p. 241\u201365. [cited 2019 May 27]. Available from: \nhttp:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26424649","DOI":"10.1007\/978-3-319-22822-8_10"},{"key":"698_CR32","doi-asserted-by":"crossref","unstructured":"la Marca G, Canessa C, Giocaliere E, Romano F, Malvagia S, Funghini S, et al. Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots. J Allergy Clin Immunol [Internet]. 2014;134:155\u20139. [cited 2019 Aug 24]. Available from: \nhttps:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0091674914002656","DOI":"10.1016\/j.jaci.2014.01.040"},{"key":"698_CR33","doi-asserted-by":"crossref","unstructured":"Pai S-Y, Logan BR, Griffith LM, Buckley RH, Parrott RE, Dvorak CC, et al. Transplantation outcomes for severe combined immunodeficiency, 2000\u20132009. N Engl J Med [Internet]. 2014;371:434\u201346. [cited 2019 Jul 8]. Available from: \nhttp:\/\/www.ncbi.nlm.nih.gov\/pubmed\/25075835","DOI":"10.1056\/NEJMoa1401177"},{"key":"698_CR34","doi-asserted-by":"crossref","unstructured":"Mansouri A, Min W, Cole CJ, Josselyn SA, Henderson JT, van Eede M, et al. Cerebellar abnormalities in purine nucleoside phosphorylase deficient mice. Neurobiol Dis [Internet]. 2012;47:201\u20139. [cited 2019 Aug 24]. Available from: \nhttps:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0969996112001301","DOI":"10.1016\/j.nbd.2012.04.001"}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-019-00698-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10875-019-00698-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-019-00698-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,11,8]],"date-time":"2020-11-08T00:50:04Z","timestamp":1604796604000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10875-019-00698-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11,9]]},"references-count":34,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,1]]}},"alternative-id":["698"],"URL":"https:\/\/doi.org\/10.1007\/s10875-019-00698-1","relation":{},"ISSN":["0271-9142","1573-2592"],"issn-type":[{"value":"0271-9142","type":"print"},{"value":"1573-2592","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,11,9]]},"assertion":[{"value":"10 July 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 September 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 November 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}