{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:06:37Z","timestamp":1791353197328,"version":"4.3.1"},"reference-count":53,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,12,18]],"date-time":"2018-12-18T00:00:00Z","timestamp":1545091200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000060","name":"National Institute of Allergy and Infectious Diseases","doi-asserted-by":"publisher","award":["AI 082973 and AI105776"],"award-info":[{"award-number":["AI 082973 and AI105776"]}],"id":[{"id":"10.13039\/100000060","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Immunological Reviews"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    The development of a T cell receptor excision circle (\n                    <jats:styled-content style=\"fixed-case\">TREC<\/jats:styled-content>\n                    ) assay utilizing dried blood spots (DBS) made possible universal newborn screening (\n                    <jats:styled-content style=\"fixed-case\">NBS<\/jats:styled-content>\n                    ) for severe combined immunodeficiency (\n                    <jats:styled-content style=\"fixed-case\">SCID<\/jats:styled-content>\n                    ) as a public health measure. Upon being flagged by an abnormal screening test in a\n                    <jats:styled-content style=\"fixed-case\">SCID<\/jats:styled-content>\n                    screening program, an infant can receive further diagnostic testing for\n                    <jats:styled-content style=\"fixed-case\">SCID<\/jats:styled-content>\n                    in the neonatal period, prior to onset of infectious complications, to permit immediate institution of protective measures and definitive, life\u2010saving treatment to establish a functional immune system.\n                    <jats:styled-content style=\"fixed-case\">SCID<\/jats:styled-content>\n                    screening is now the accepted standard of care in state public health departments across the\n                    <jats:styled-content style=\"fixed-case\">United States<\/jats:styled-content>\n                    , and it is being adopted in many countries. It has proven effective, with infants having this otherwise inapparent but serious, rare disorder achieving survival and immune reconstitution. In addition to bringing to attention infants with the primary screening target diseases, typical\n                    <jats:styled-content style=\"fixed-case\">SCID<\/jats:styled-content>\n                    and leaky\n                    <jats:styled-content style=\"fixed-case\">SCID<\/jats:styled-content>\n                    (due to hypomorphic mutations in known\n                    <jats:styled-content style=\"fixed-case\">SCID<\/jats:styled-content>\n                    genes), the NBS assay for insufficient\n                    <jats:styled-content style=\"fixed-case\">TREC<\/jats:styled-content>\n                    s in DBS also reveals infants with non\u2010\n                    <jats:styled-content style=\"fixed-case\">SCID<\/jats:styled-content>\n                    T lymphopenic conditions. Experience has accumulated regarding the range and limitations of diagnoses of newborns with low\n                    <jats:styled-content style=\"fixed-case\">TREC<\/jats:styled-content>\n                    s and low T cells. Previously unknown immune defects have been discovered, as well as conditions not formerly recognized to have low T cells in the neonatal period.\n                  <\/jats:p>","DOI":"10.1111\/imr.12729","type":"journal-article","created":{"date-parts":[[2018,12,18]],"date-time":"2018-12-18T20:12:24Z","timestamp":1545163944000},"page":"241-252","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":150,"title":["Newborn screening for severe combined immunodeficiency and T\u2010cell lymphopenia"],"prefix":"10.1111","volume":"287","author":[{"given":"Jennifer M.","family":"Puck","sequence":"first","affiliation":[{"name":"Division of Allergy, Immunology and Blood and Marrow Transplantation Department of Pediatrics UCSF  San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,12,18]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.immunol.22.012703.104614"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.semperi.2015.03.004"},{"issue":"7564","key":"e_1_2_11_4_1","first-page":"388","article-title":"Immunological reconstitution of sex\u2010linked lymphopenic immunological deficiency","volume":"2","author":"Gatti RA","year":"1968","journal-title":"Lancet"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199902183400703"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-013-9917-y"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1401177"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2017-05-781849"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V99.3.872"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2010.09.010"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-017-0464-9"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx1153"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1959.02070010389004"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hoc.2012.11.002"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI90367"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aad8856"},{"key":"e_1_2_11_17_1","first-page":"523","article-title":"Interim results from a phase I\/II clinical gene therapy study for newly diagnosed infants with X\u2010linked severe combined immunodeficiency using a safety\u2010modified lentiviral vector and targeted reduced exposure to busulfan","volume":"130","author":"Mamcarz E","year":"2017","journal-title":"Blood"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2018.08.024"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2017.01.007"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2012-0852"},{"key":"e_1_2_11_21_1","first-page":"831","article-title":"Follow\u2010up status during the first 5\u00a0years of life for metabolic disorders on the federal Recommended Uniform Screening Panel","volume":"20","author":"Feuchtbaum L","year":"2018","journal-title":"Genomics in Med"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23356"},{"issue":"4","key":"e_1_2_11_23_1","first-page":"281","article-title":"Principles and practice of mass screening for disease","volume":"65","author":"Wilson JM","year":"1968","journal-title":"Boletin de la Oficina Sanitaria Panamericana. 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