{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T23:05:30Z","timestamp":1781651130653,"version":"3.54.5"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2022,6,22]],"date-time":"2022-06-22T00:00:00Z","timestamp":1655856000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2022,6,22]],"date-time":"2022-06-22T00:00:00Z","timestamp":1655856000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"published-print":{"date-parts":[[2022,8]]},"DOI":"10.1007\/s10875-022-01307-4","type":"journal-article","created":{"date-parts":[[2022,6,22]],"date-time":"2022-06-22T00:02:37Z","timestamp":1655856157000},"page":"1321-1329","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Severe Combined Immunodeficiency (SCID) Screening in Arizona: Lessons Learned from the First 2 Years"],"prefix":"10.1007","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3569-0617","authenticated-orcid":false,"given":"Natalie A.","family":"Booth","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine M.","family":"Freeman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin L.","family":"Wright","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Rukasin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priscila","family":"Badia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Daines","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cindy S.","family":"Bauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holly","family":"Miller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,6,22]]},"reference":[{"issue":"1","key":"1307_CR1","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1182\/hematology.2019000052","volume":"2019","author":"SY Pai","year":"2019","unstructured":"Pai SY. Treatment of primary immunodeficiency with allogeneic transplant and gene therapy. Hematol Am Soc Hematol Educ Program. 2019;2019(1):457\u201365. https:\/\/doi.org\/10.1182\/hematology.2019000052.","journal-title":"Hematol Am Soc Hematol Educ Program"},{"issue":"3","key":"1307_CR2","doi-asserted-by":"publisher","first-page":"852","DOI":"10.1016\/j.jaci.2018.08.024","volume":"143","author":"DB Kohn","year":"2019","unstructured":"Kohn DB, Hershfield MS, Puck JM, Aiuti A, Blincoe A, Gaspar HB, et al. Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency. J Allergy Clin Immunol. 2019;143(3):852\u201363. https:\/\/doi.org\/10.1016\/j.jaci.2018.08.024.","journal-title":"J Allergy Clin Immunol"},{"key":"1307_CR3","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1016\/j.omtm.2019.08.014","volume":"15","author":"S Charrier","year":"2019","unstructured":"Charrier S, Lagresle-Peyrou C, Poletti V, Rothe M, C\u00e9drone G, Gjata B, et al. Biosafety studies of a clinically applicable lentiviral vector for the gene therapy of Artemis-SCID. Mol Ther Methods Clin Dev. 2019;15:232\u201345. https:\/\/doi.org\/10.1016\/j.omtm.2019.08.014.","journal-title":"Mol Ther Methods Clin Dev"},{"issue":"1","key":"1307_CR4","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/j.clim.2010.09.010","volume":"138","author":"A Chan","year":"2011","unstructured":"Chan A, Scalchunes C, Boyle M, Puck JM. Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey. Clin Immunol. 2011;138(1):3\u20138. https:\/\/doi.org\/10.1016\/j.clim.2010.09.010.","journal-title":"Clin Immunol."},{"issue":"5","key":"1307_CR5","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1056\/NEJMoa1401177","volume":"371","author":"SY Pai","year":"2014","unstructured":"Pai SY, Logan BR, Griffith LM, Buckley RH, Parrott RE, Dvorak CC, et al. Transplantation outcomes for severe combined immunodeficiency, 2000\u20132009. N Engl J Med. 2014;371(5):434\u201346. https:\/\/doi.org\/10.1056\/NEJMoa1401177.","journal-title":"N Engl J Med"},{"issue":"6","key":"1307_CR6","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1007\/s11882-018-0783-9","volume":"18","author":"J Routes","year":"2018","unstructured":"Routes J, Verbsky J. Newborn screening for severe combined immunodeficiency. Curr Allergy Asthma Rep. 2018;18(6):34. https:\/\/doi.org\/10.1007\/s11882-018-0783-9.","journal-title":"Curr Allergy Asthma Rep"},{"key":"1307_CR7","unstructured":"Newborn screening for severe combined immunodeficiency: a summary of the evidence and Advisory Committee decision. Report date 29 April 2009. Accessed November 2, 2020. https:\/\/www.hrsa.gov\/sites\/default\/files\/hrsa\/advisory-committees\/heritable-disorders\/rusp\/previous-nominatoins\/scid-27-june-2018.pdf."},{"issue":"7","key":"1307_CR8","doi-asserted-by":"publisher","first-page":"729","DOI":"10.1001\/jama.2014.9132","volume":"312","author":"A Kwan","year":"2014","unstructured":"Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014;312(7):729\u201338. https:\/\/doi.org\/10.1001\/jama.2014.9132.","journal-title":"JAMA"},{"key":"1307_CR9","unstructured":"Services ADoH. Population health and vital statistics. Available from: https:\/\/pub.azdhs.gov\/health-stats\/menu\/info\/trend\/index.php?pg=births. Accessed 10 Jan 2021"},{"key":"1307_CR10","unstructured":"Wright BL, Miller H, Adams R, Daines M Newborn screening for severe combined immunodeficiency in Arizona. https:\/\/azdhs.gov\/documents\/preparedness\/state-laboratory\/newborn-screening\/scid-event\/nbs-scid-poster.pdf2016 [updated 2016. Arizona Department of Health]. Accessed 10 Jan 2021"},{"issue":"12","key":"1307_CR11","doi-asserted-by":"publisher","first-page":"6323","DOI":"10.4049\/jimmunol.168.12.6323","volume":"168","author":"L Li","year":"2002","unstructured":"Li L, Moshous D, Zhou Y, Wang J, Xie G, Salido E, et al. A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans. J Immunol. 2002;168(12):6323\u20139. https:\/\/doi.org\/10.4049\/jimmunol.168.12.6323.","journal-title":"J Immunol"},{"issue":"1","key":"1307_CR12","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1016\/j.clim.2015.02.015","volume":"158","author":"A Kwan","year":"2015","unstructured":"Kwan A, Hu D, Song M, Gomes H, Brown DR, Bourque T, et al. Successful newborn screening for SCID in the Navajo Nation. Clin Immunol. 2015;158(1):29\u201334. https:\/\/doi.org\/10.1016\/j.clim.2015.02.015.","journal-title":"Clin Immunol"},{"issue":"1","key":"1307_CR13","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1016\/j.jaci.2013.04.024","volume":"132","author":"A Kwan","year":"2013","unstructured":"Kwan A, Church JA, Cowan MJ, Agarwal R, Kapoor N, Kohn DB, et al. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. J Allergy Clin Immunol. 2013;132(1):140\u201350. https:\/\/doi.org\/10.1016\/j.jaci.2013.04.024.","journal-title":"J Allergy Clin Immunol"},{"key":"1307_CR14","unstructured":"United States Census Bureau QuickFacts [Internet]. 2020 [updated 2020 Dec 10, cited 2021 Jan 10]. Available from: https:\/\/www.census.gov\/quickfacts\/fact\/table\/AZ,US\/RHI325219."},{"issue":"5","key":"1307_CR15","doi-asserted-by":"publisher","first-page":"973","DOI":"10.1016\/j.jaci.2003.07.003","volume":"112","author":"WT Shearer","year":"2003","unstructured":"Shearer WT, Rosenblatt HM, Gelman RS, Oyomopito R, Plaeger S, Stiehm ER, et al. Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study. J Allergy Clin Immunol. 2003;112(5):973\u201380. https:\/\/doi.org\/10.1016\/j.jaci.2003.07.003.","journal-title":"J Allergy Clin Immunol"},{"issue":"3","key":"1307_CR16","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1016\/j.ajhg.2019.07.014","volume":"105","author":"M Bosticardo","year":"2019","unstructured":"Bosticardo M, Yamazaki Y, Cowan J, Giardino G, Corsino C, Scalia G, et al. Heterozygous FOXN1 variants cause low TRECs and severe T cell lymphopenia, revealing a crucial role of FOXN1 in supporting early thymopoiesis. Am J Hum Genet. 2019;105(3):549\u201361. https:\/\/doi.org\/10.1016\/j.ajhg.2019.07.014.","journal-title":"Am J Hum Genet"},{"issue":"1","key":"1307_CR17","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.iac.2018.08.002","volume":"39","author":"MJ Dorsey","year":"2019","unstructured":"Dorsey MJ, Puck JM. Newborn screening for severe combined immunodeficiency in the United States: lessons learned. Immunol Allergy Clin North Am. 2019;39(1):1\u201311. https:\/\/doi.org\/10.1016\/j.iac.2018.08.002.","journal-title":"Immunol Allergy Clin North Am"},{"issue":"Suppl 1","key":"1307_CR18","doi-asserted-by":"publisher","first-page":"1779","DOI":"10.1073\/pnas.0906079106","volume":"107","author":"AH Bittles","year":"2010","unstructured":"Bittles AH, Black ML. Evolution in health and medicine Sackler colloquium: consanguinity, human evolution, and complex diseases. Proc Natl Acad Sci USA. 2010;107(Suppl 1):1779\u201386. https:\/\/doi.org\/10.1073\/pnas.0906079106.","journal-title":"Proc Natl Acad Sci USA"},{"issue":"25","key":"1307_CR19","doi-asserted-by":"publisher","first-page":"2718","DOI":"10.1182\/blood-2017-05-781849","volume":"130","author":"J Heimall","year":"2017","unstructured":"Heimall J, Logan BR, Cowan MJ, Notarangelo LD, Griffith LM, Puck JM, et al. Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study. Blood. 2017;130(25):2718\u201327. https:\/\/doi.org\/10.1182\/blood-2017-05-781849.","journal-title":"Blood"},{"issue":"1","key":"1307_CR20","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1111\/imr.12729","volume":"287","author":"JM Puck","year":"2019","unstructured":"Puck JM. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia. Immunol Rev. 2019;287(1):241\u201352. https:\/\/doi.org\/10.1111\/imr.12729.","journal-title":"Immunol Rev"},{"issue":"3","key":"1307_CR21","doi-asserted-by":"publisher","first-page":"540","DOI":"10.1007\/s10875-012-9846-1","volume":"33","author":"J Mallott","year":"2013","unstructured":"Mallott J, Kwan A, Church J, Gonzalez-Espinosa D, Lorey F, Tang LF, et al. Newborn screening for SCID identifies patients with ataxia telangiectasia. J Clin Immunol. 2013;33(3):540\u20139. https:\/\/doi.org\/10.1007\/s10875-012-9846-1.","journal-title":"J Clin Immunol"},{"issue":"1","key":"1307_CR22","doi-asserted-by":"publisher","first-page":"198","DOI":"10.1016\/j.jaip.2016.09.028","volume":"5","author":"CY Kuo","year":"2017","unstructured":"Kuo CY, Garcia-Lloret MI, Slev P, Bohnsack JF, Chen K. Profound T-cell lymphopenia associated with prenatal exposure to purine antagonists detected by TREC newborn screening. J Allergy Clin Immunol Pract. 2017;5(1):198\u2013200. https:\/\/doi.org\/10.1016\/j.jaip.2016.09.028.","journal-title":"J Allergy Clin Immunol Pract"}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-022-01307-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10875-022-01307-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-022-01307-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,6]],"date-time":"2022-10-06T17:49:10Z","timestamp":1665078550000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10875-022-01307-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,22]]},"references-count":22,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2022,8]]}},"alternative-id":["1307"],"URL":"https:\/\/doi.org\/10.1007\/s10875-022-01307-4","relation":{},"ISSN":["0271-9142","1573-2592"],"issn-type":[{"value":"0271-9142","type":"print"},{"value":"1573-2592","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,22]]},"assertion":[{"value":"18 January 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 June 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 June 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This is an observational\/retrospective study. The Phoenix Children\u2019s Hospital Research Ethics Committee has confirmed that no ethical approval is required. Phoenix Children\u2019s Hospital Institutional Review Board did approve the study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics Approval"}},{"value":"As this was a retrospective study and no intervention took place, the study did not require informed consent from study subjects. The Phoenix Children\u2019s Hospital Institutional Review Board approved the study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Participate"}},{"value":"Not applicable, this is a retrospective study.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Publish"}},{"value":"The authors declare no competing interests.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}]}}