{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T02:07:33Z","timestamp":1780452453038,"version":"3.54.1"},"reference-count":23,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2014,7,1]],"date-time":"2014-07-01T00:00:00Z","timestamp":1404172800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,7,1]],"date-time":"2014-07-01T00:00:00Z","timestamp":1404172800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jacionline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Allergy and Clinical Immunology"],"published-print":{"date-parts":[[2014,7]]},"DOI":"10.1016\/j.jaci.2014.01.040","type":"journal-article","created":{"date-parts":[[2014,4,24]],"date-time":"2014-04-24T06:20:51Z","timestamp":1398320451000},"page":"155-159.e3","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":51,"title":["Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots"],"prefix":"10.1016","volume":"134","author":[{"given":"Giancarlo","family":"la Marca","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clementina","family":"Canessa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Giocaliere","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Romano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Malvagia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Funghini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Moriondo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Valleriani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Lippi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Ombrone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Luisa","family":"Della Bona","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten","family":"Speckmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Borte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Brodszki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew R.","family":"Gennery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"Weinacht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatih","family":"Celmeli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Pagel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"de Martino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renzo","family":"Guerrini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helmut","family":"Wittkowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ines","family":"Santisteban","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pawan","family":"Bali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aydan","family":"Ikinciogullari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Hershfield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi D.","family":"Notarangelo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Resti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Azzari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaci.2014.01.040_bib1","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1016\/j.jaci.2009.07.053","article-title":"Primary immunodeficiencies","volume":"125","author":"Notarangelo","year":"2010","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2014.01.040_bib2","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1016\/j.jaci.2013.04.024","article-title":"Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years","volume":"132","author":"Kwan","year":"2013","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2014.01.040_bib3","unstructured":"Health Resources and Services Administration. Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. Resolution from the 20th meeting, January 22, 2010; Washington, DC. Available at: http:\/\/www.hrsa.gov\/heritabledisorderscommittee\/."},{"key":"10.1016\/j.jaci.2014.01.040_bib4","first-page":"45","article-title":"Purine nucleoside phosphorylase deficiency","volume":"3","author":"Markert","year":"1991","journal-title":"Immunodefic Rev"},{"key":"10.1016\/j.jaci.2014.01.040_bib5","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1007\/s12026-012-8380-9","article-title":"Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency","volume":"56","author":"Somech","year":"2013","journal-title":"Immunol Res"},{"key":"10.1016\/j.jaci.2014.01.040_bib6","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1016\/j.clinbiochem.2009.08.017","article-title":"A novel mutation in purine nucleoside phosphorylase in a child with normal uric acid levels","volume":"42","author":"Al-Saud","year":"2009","journal-title":"Clin Biochem"},{"key":"10.1016\/j.jaci.2014.01.040_bib7","series-title":"The metabolic and molecular bases of inherited disease","first-page":"2585","article-title":"Immunodeficiency diseases caused by adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency","author":"Hershfield","year":"2001"},{"key":"10.1016\/j.jaci.2014.01.040_bib8","series-title":"Immunologic disorders in infants and children","first-page":"480","article-title":"Combined immune deficiencies due to purine enzyme defects","author":"Hershfield","year":"2004"},{"key":"10.1016\/j.jaci.2014.01.040_bib9","doi-asserted-by":"crossref","first-page":"1394","DOI":"10.1016\/j.jaci.2011.03.040","article-title":"Neonatal screening for severe combined immunodeficiency caused by an adenosine deaminase defect: a reliable and inexpensive method using tandem mass spectrometry","volume":"127","author":"Azzari","year":"2011","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2014.01.040_bib10","doi-asserted-by":"crossref","first-page":"1604","DOI":"10.1016\/j.jaci.2012.08.054","article-title":"Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency","volume":"131","author":"la Marca","year":"2013","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2014.01.040_bib11","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1097\/MOP.0b013e32834cb9b0","article-title":"Neonatal screening for severe combined immunodeficiency (SCID)","volume":"23","author":"Puck","year":"2011","journal-title":"Curr Opin Pediatr"},{"key":"10.1016\/j.jaci.2014.01.040_bib12","doi-asserted-by":"crossref","first-page":"2552","DOI":"10.1182\/blood-2011-08-371021","article-title":"Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR","volume":"119","author":"Borte","year":"2012","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2014.01.040_bib13","doi-asserted-by":"crossref","first-page":"S395","DOI":"10.1007\/s10545-008-0965-z","article-title":"Progress in expanded newborn screening for metabolic conditions by LC-MS\/MS in Tuscany: update on methods to reduce false tests","volume":"31","author":"la Marca","year":"2008","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jaci.2014.01.040_bib14","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1172\/JCI114730","article-title":"Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency","volume":"86","author":"Arredondo-Vega","year":"1990","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaci.2014.01.040_bib15","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1182\/blood.V99.3.1005","article-title":"Adenosine deaminase deficiency with mosaicism for a \u201csecond-site suppressor\u201d of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy","volume":"99","author":"Arredondo-Vega","year":"2002","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2014.01.040_bib16","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1002\/(SICI)1098-1004(1997)9:2<118::AID-HUMU3>3.0.CO;2-5","article-title":"Mutations in purine nucleoside phosphorylase deficiency","volume":"9","author":"Markert","year":"1997","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jaci.2014.01.040_bib17","doi-asserted-by":"crossref","first-page":"1411","DOI":"10.1081\/NCN-200027647","article-title":"Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency","volume":"23","author":"Grunebaum","year":"2004","journal-title":"Nucleosides Nucleotides Nucleic Acids"},{"key":"10.1016\/j.jaci.2014.01.040_bib18","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1034\/j.1399-0004.2001.590608.x","article-title":"Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient","volume":"59","author":"Dalal","year":"2001","journal-title":"Clin Genet"},{"key":"10.1016\/j.jaci.2014.01.040_bib19","first-page":"763","article-title":"Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency","volume":"51","author":"Aust","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2014.01.040_bib20","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1016\/j.jaci.2012.04.004","article-title":"Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis","volume":"130","author":"Speckmann","year":"2012","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2014.01.040_bibE1","doi-asserted-by":"crossref","first-page":"1604","DOI":"10.1016\/j.jaci.2012.08.054","article-title":"Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency","volume":"131","author":"la Marca","year":"2013","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2014.01.040_bibE2","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1097\/MOP.0b013e32834cb9b0","article-title":"Neonatal screening for severe combined immunodeficiency (SCID)","volume":"23","author":"Puck","year":"2011","journal-title":"Curr Opin Pediatr"},{"key":"10.1016\/j.jaci.2014.01.040_bibE3","doi-asserted-by":"crossref","first-page":"2552","DOI":"10.1182\/blood-2011-08-371021","article-title":"Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR","volume":"119","author":"Borte","year":"2012","journal-title":"Blood"}],"container-title":["Journal of Allergy and Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674914002656?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674914002656?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T08:46:28Z","timestamp":1758789988000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0091674914002656"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,7]]},"references-count":23,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,7]]}},"alternative-id":["S0091674914002656"],"URL":"https:\/\/doi.org\/10.1016\/j.jaci.2014.01.040","relation":{},"ISSN":["0091-6749"],"issn-type":[{"value":"0091-6749","type":"print"}],"subject":[],"published":{"date-parts":[[2014,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots","name":"articletitle","label":"Article Title"},{"value":"Journal of Allergy and Clinical Immunology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jaci.2014.01.040","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}