{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T01:46:18Z","timestamp":1788572778371,"version":"build-2803163510"},"reference-count":43,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2014,4,1]],"date-time":"2014-04-01T00:00:00Z","timestamp":1396310400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,4,1]],"date-time":"2014-04-01T00:00:00Z","timestamp":1396310400000},"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":[[2014,4]]},"DOI":"10.1016\/j.jaci.2013.09.044","type":"journal-article","created":{"date-parts":[[2013,11,27]],"date-time":"2013-11-27T21:56:32Z","timestamp":1385589392000},"page":"1092-1098","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":305,"title":["Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortium experience"],"prefix":"10.1016","volume":"133","author":[{"given":"William T.","family":"Shearer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Dunn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi D.","family":"Notarangelo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher C.","family":"Dvorak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer M.","family":"Puck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brent R.","family":"Logan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda M.","family":"Griffith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donald B.","family":"Kohn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J.","family":"O'Reilly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas A.","family":"Fleisher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung-Yun","family":"Pai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caridad A.","family":"Martinez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca H.","family":"Buckley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morton J.","family":"Cowan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaci.2013.09.044_bib1","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1016\/j.jaci.2008.09.045","article-title":"Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs","volume":"122","author":"Griffith","year":"2008","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2013.09.044_bib2","doi-asserted-by":"crossref","first-page":"1152","DOI":"10.1016\/j.jaci.2009.10.022","article-title":"Improving cellular therapy for primary immune deficiency diseases\u2014recognition, diagnosis and management","volume":"124","author":"Griffith","year":"2009","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2013.09.044_bib3","article-title":"Primary Immune Deficiency Treatment Consortium (PIDTC) report","author":"Griffith","year":"2013","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2013.09.044_bib4","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1007\/s12026-010-8191-9","article-title":"Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: long term outcomes","volume":"49","author":"Buckley","year":"2011","journal-title":"Immunol Res"},{"key":"10.1016\/j.jaci.2013.09.044_bib5","series-title":"Thomas' hematopoietic cell transplantation","first-page":"1105","article-title":"Hematopoietic cell transplantation for immunodeficiency diseases","author":"Small","year":"2009"},{"key":"10.1016\/j.jaci.2013.09.044_bib6","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1016\/S0022-3476(05)80951-5","article-title":"Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients","volume":"123","author":"Stephan","year":"1993","journal-title":"J Pediatr"},{"key":"10.1016\/j.jaci.2013.09.044_bib7","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1097\/01.all.0000246616.47708.2f","article-title":"Stem cell transplantation in primary immunodeficiencies","volume":"6","author":"Notarangelo","year":"2006","journal-title":"Curr Opin Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2013.09.044_bib8","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.1093\/hmg\/2.8.1099","article-title":"The\u00a0interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1","volume":"2","author":"Puck","year":"1993","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jaci.2013.09.044_bib9","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/0092-8674(93)90167-O","article-title":"Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans","volume":"73","author":"Noguchi","year":"1993","journal-title":"Cell"},{"key":"10.1016\/j.jaci.2013.09.044_bib10","series-title":"Primary immunodeficiency diseases: a molecular and genetic approach","first-page":"169","article-title":"Immunodeficiency diseases due to deficiency of adenosine deaminase","author":"Hirschhorn","year":"2007"},{"key":"10.1016\/j.jaci.2013.09.044_bib11","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1038\/ng.278","article-title":"Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness","volume":"41","author":"Lagresle-Peyrou","year":"2009","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2013.09.044_bib12","doi-asserted-by":"crossref","first-page":"2009","DOI":"10.1182\/blood-2003-06-2104","article-title":"Janus kinase 3 (JAK3) deficiency: clinical, immunologic and molecular analyses of 10 patients and outcomes of stem cell transplantation","volume":"103","author":"Roberts","year":"2004","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2013.09.044_bib13","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1038\/3877","article-title":"Defective IL7R expression in T(-) B(+) NK(+) severe combined immunodeficiency","volume":"20","author":"Puel","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2013.09.044_bib14","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1126\/science.274.5284.97","article-title":"RAG\u00a0mutations in human B cell-negative SCID","volume":"274","author":"Schwarz","year":"1996","journal-title":"Science"},{"key":"10.1016\/j.jaci.2013.09.044_bib15","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/73208","article-title":"Mutations\u00a0in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease","volume":"6","author":"Kung","year":"2000","journal-title":"Nat Med"},{"key":"10.1016\/j.jaci.2013.09.044_bib16","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.4049\/jimmunol.166.2.1308","article-title":"A\u00a0deletion in the gene encoding the CD45 antigen in a patient with SCID","volume":"166","author":"Tchilian","year":"2001","journal-title":"J Immunol"},{"key":"10.1016\/j.jaci.2013.09.044_bib17","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1093\/hmg\/9.4.583","article-title":"A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p","volume":"9","author":"Moshous","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jaci.2013.09.044_bib18","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1002\/eji.200535401","article-title":"Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV","volume":"36","author":"Buck","year":"2006","journal-title":"Eur J Immunol"},{"key":"10.1016\/j.jaci.2013.09.044_bib19","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/j.cell.2005.12.031","article-title":"XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining","volume":"124","author":"Ahnesorg","year":"2006","journal-title":"Cell"},{"key":"10.1016\/j.jaci.2013.09.044_bib20","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/j.cell.2005.12.030","article-title":"Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly","volume":"124","author":"Buck","year":"2006","journal-title":"Cell"},{"key":"10.1016\/j.jaci.2013.09.044_bib21","first-page":"91","article-title":"A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining","volume":"119","author":"van der Burg","year":"2009","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaci.2013.09.044_bib22","doi-asserted-by":"crossref","first-page":"1821","DOI":"10.1056\/NEJMoa031178","article-title":"Effect of CD3delta deficiency on maturation of alpha\/beta and gamma\/delta T-cell lineages in severe combined immunodeficiency","volume":"349","author":"Dadi","year":"2003","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2013.09.044_bib23","doi-asserted-by":"crossref","first-page":"1512","DOI":"10.1172\/JCI200422588","article-title":"Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3","volume":"114","author":"de Saint Basile","year":"2004","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaci.2013.09.044_bib24","doi-asserted-by":"crossref","first-page":"3198","DOI":"10.1182\/blood-2006-08-043166","article-title":"T-B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3 zeta subunit of the T cell antigen receptor complex","volume":"109","author":"Roberts","year":"2007","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2013.09.044_bib25","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1182\/blood-2006-11-058933","article-title":"Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency","volume":"110","author":"Chinen","year":"2007","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2013.09.044_bib26","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1126\/science.270.5235.475","article-title":"T\u00a0lymphocyte\u2212directed gene therapy for ADA-SCID: initial trial results after 4\u00a0years","volume":"270","author":"Blaese","year":"1995","journal-title":"Science"},{"key":"10.1016\/j.jaci.2013.09.044_bib27","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1126\/science.270.5235.470","article-title":"Gene therapy in peripheral blood lymphocytes and bone marrow for ADA-immunodeficient patients","volume":"270","author":"Bordignon","year":"1995","journal-title":"Science"},{"key":"10.1016\/j.jaci.2013.09.044_bib28","doi-asserted-by":"crossref","first-page":"3635","DOI":"10.1182\/blood-2012-02-400937","article-title":"Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans","volume":"120","author":"Candotti","year":"2012","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2013.09.044_bib29","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1182\/asheducation-2009.1.682","article-title":"Ten years of gene therapy for primary immune deficiencies","author":"Aiuti","year":"2009","journal-title":"Hematology Am Soc Hematol Educ Program"},{"key":"10.1016\/j.jaci.2013.09.044_bib30","doi-asserted-by":"crossref","first-page":"3524","DOI":"10.1182\/blood-2009-06-189209","article-title":"How\u00a0I\u00a0treat ADA deficiency","volume":"114","author":"Gaspar","year":"2009","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2013.09.044_bib31","doi-asserted-by":"crossref","first-page":"e1547","DOI":"10.1542\/peds.2007-2951","article-title":"The Committee on Pediatric AIDS. Diagnosis of HIV-1 infection in children younger than 18 months in the United States","volume":"120","author":"Read","year":"2007","journal-title":"Pediatrics"},{"key":"10.1016\/j.jaci.2013.09.044_bib32","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/j.jpeds.2009.07.049","article-title":"Long term clinical outcome of patients with severe combined immunodeficiency who received related donor bone marrow transplants without pre-transplant chemotherapy or post-transplant GVHD prophylaxis","volume":"155","author":"Railey","year":"2009","journal-title":"J Pediatr"},{"key":"10.1016\/j.jaci.2013.09.044_bib33","doi-asserted-by":"crossref","first-page":"2711","DOI":"10.4049\/jimmunol.170.5.2711","article-title":"T cell repertoire development in humans with SCID after nonablative allogeneic marrow transplantation","volume":"170","author":"Sarzotti","year":"2003","journal-title":"J Immunol"},{"key":"10.1016\/j.jaci.2013.09.044_bib34","doi-asserted-by":"crossref","first-page":"2021","DOI":"10.1182\/blood.V81.8.2021.2021","article-title":"Immune reconstitution in severe combined immunodeficiency disease after lectin-treated, T cell depleted haplocompatible bone marrow transplantation","volume":"81","author":"Dror","year":"1993","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2013.09.044_bib35","first-page":"273","article-title":"The use of HLA-non-identical T\u00a0cell depleted marrow transplants for correction of severe combined immunodeficiency disease","volume":"1","author":"O'Reilly","year":"1989","journal-title":"Immunodefic Rev"},{"key":"10.1016\/j.jaci.2013.09.044_bib36","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1016\/j.bbmt.2008.07.008","article-title":"Megadose CD34+ cell grafts improve recovery of T cell engraftment but not B cell immunity in\u00a0patients with severe combined immunodeficiency disease undergoing haplocompatible non-myeloablative transplantation","volume":"14","author":"Dvorak","year":"2008","journal-title":"Biol Blood Marrow Transplant"},{"key":"10.1016\/j.jaci.2013.09.044_bib37","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1016\/j.jaci.2009.08.041","article-title":"Outcomes of severe combined immunodeficiency patients treated with hematopoietic stem cell transplantation with and without pre-conditioning","volume":"124","author":"Patel","year":"2009","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2013.09.044_bib38","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1001\/jama.295.5.508","article-title":"Bone marrow transplantation for severe combined immune deficiency","volume":"295","author":"Grunebaum","year":"2006","journal-title":"JAMA"},{"key":"10.1016\/j.jaci.2013.09.044_bib39","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1016\/S0140-6736(03)12513-5","article-title":"Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-99","volume":"361","author":"Antoine","year":"2003","journal-title":"Lancet"},{"key":"10.1016\/j.jaci.2013.09.044_bib40","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1016\/j.jaci.2007.08.007","article-title":"Long-term\u00a0immune reconstitution and clinical outcome after stem cell transplantation for severe T-cell immunodeficiency","volume":"120","author":"Mazzolari","year":"2007","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2013.09.044_bib41","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1016\/j.jaci.2010.06.015","article-title":"Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better?","volume":"126","author":"Gennery","year":"2010","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2013.09.044_bib42","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1016\/j.jaci.2013.04.024","article-title":"Newborn\u00a0screening 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.2013.09.044_bib43","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1038\/gim.2012.157","article-title":"Implementing genomic medicine in the clinic: the future is here","volume":"15","author":"Manolio","year":"2013","journal-title":"Genet Med"}],"container-title":["Journal of Allergy and Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674913014954?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674913014954?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T08:46:31Z","timestamp":1758789991000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0091674913014954"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4]]},"references-count":43,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2014,4]]}},"alternative-id":["S0091674913014954"],"URL":"https:\/\/doi.org\/10.1016\/j.jaci.2013.09.044","relation":{},"ISSN":["0091-6749"],"issn-type":[{"value":"0091-6749","type":"print"}],"subject":[],"published":{"date-parts":[[2014,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortium experience","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.2013.09.044","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Published by Mosby, Inc.","name":"copyright","label":"Copyright"}]}}