{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T02:20:14Z","timestamp":1777947614460,"version":"3.51.4"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","license":[{"start":{"date-parts":[[2014,3,9]],"date-time":"2014-03-09T00:00:00Z","timestamp":1394323200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"DOI":"10.1007\/s10875-014-0002-y","type":"journal-article","created":{"date-parts":[[2014,3,8]],"date-time":"2014-03-08T06:50:20Z","timestamp":1394261420000},"source":"Crossref","is-referenced-by-count":9,"title":["Retrospective Analysis of TREC Based Newborn Screening Results and Clinical Phenotypes in Infants with the 22q11 Deletion Syndrome"],"prefix":"10.1007","author":[{"given":"Jenny","family":"Lingman Framme","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephan","family":"Borte","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrika","family":"von D\u00f6beln","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lennart","family":"Hammarstr\u00f6m","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00f3lveig","family":"\u00d3skarsd\u00f3ttir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,3,9]]},"reference":[{"key":"2_CR1","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1186\/1824-7288-36-76","volume":"36","author":"F Cossu","year":"2010","unstructured":"Cossu F. Genetics of SCID. Ital J Pediatr. 2010;36:76.","journal-title":"Ital J Pediatr"},{"key":"2_CR2","doi-asserted-by":"crossref","first-page":"3243","DOI":"10.1182\/blood-2010-08-300384","volume":"117","author":"L Brown","year":"2011","unstructured":"Brown L, Xu-Bayford J, Allwood Z, et al. Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening. Blood. 2011;117:3243\u20136.","journal-title":"Blood"},{"key":"2_CR3","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.jaci.2012.01.032","volume":"129","author":"JM Puck","year":"2012","unstructured":"Puck JM. Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles. J Allergy Clin Immunol. 2012;129:607\u201316.","journal-title":"J Allergy Clin Immunol"},{"key":"2_CR4","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1016\/j.jaci.2011.12.004","volume":"129","author":"J Verbsky","year":"2012","unstructured":"Verbsky J, Thakar M, Routes J. The Wisconsin approach to newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol. 2012;129:622\u20137.","journal-title":"J Allergy Clin Immunol"},{"key":"2_CR5","doi-asserted-by":"crossref","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, et al. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: Results of the first 2\u00a0years. J Allergy Clin Immunol. 2013;132:140\u201350.","journal-title":"J Allergy Clin Immunol"},{"key":"2_CR6","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.jaci.2011.01.052","volume":"128","author":"N Nakagawa","year":"2011","unstructured":"Nakagawa N, Imai K, Kanegane H, et al. Quantification of \u03ba-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects. J Allergy Clin Immunol. 2011;128:223\u20135.","journal-title":"J Allergy Clin Immunol"},{"key":"2_CR7","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1007\/s00018-011-0842-z","volume":"69","author":"AR Gennery","year":"2012","unstructured":"Gennery AR. Immunological aspects of 22q11.2 deletion syndrome. Cell Mol Life Sci. 2012;69:17\u201327.","journal-title":"Cell Mol Life Sci"},{"key":"2_CR8","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1002\/wdev.75","volume":"2","author":"I Papangeli","year":"2013","unstructured":"Papangeli I, Scambler P. The 22q11 deletion: DiGeorge and velocardiofacial syndromes and the role of TBX1. Wiley Interdiscip Rev Dev Biol. 2013;2:393\u2013403.","journal-title":"Wiley Interdiscip Rev Dev Biol"},{"key":"2_CR9","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1111\/j.1749-6632.2011.06350.x","volume":"1246","author":"S Borte","year":"2011","unstructured":"Borte S, Wang N, \u00d3skarsd\u00f3ttir S, et al. Newborn screening for primary immunodeficiencies: beyond SCID and XLA. Ann N Y Acad Sci. 2011;1246:118\u201330.","journal-title":"Ann N Y Acad Sci"},{"key":"2_CR10","doi-asserted-by":"crossref","first-page":"2552","DOI":"10.1182\/blood-2011-08-371021","volume":"119","author":"S Borte","year":"2012","unstructured":"Borte S, von D\u00f6beln U, Fasth A, et al. Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR. Blood. 2012;119:2552\u20135.","journal-title":"Blood"},{"key":"2_CR11","author":"RHJ Verstegen","year":"2013","unstructured":"Verstegen RHJ, Borte S, Bok LA, et al. Impact of Down syndrome on the performance of neonatal screening assays for severe primary immunodeficiency diseases. J Allergy Clin Immunol. 2013. doi: 10.1016\/j.jaci.2013.10.010 .","journal-title":"J Allergy Clin Immunol"},{"key":"2_CR12","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1152\/physiolgenomics.00073.2010","volume":"42A","author":"A Tomita-Mitchell","year":"2010","unstructured":"Tomita-Mitchell A, Mahnke DK, Larson JM, et al. Multiplexed quantitative PCR to detect 22q11.2 deletion in patients with congenital heart disease. Physiol Genomics. 2010;42A:52\u201360.","journal-title":"Physiol Genomics"},{"key":"2_CR13","doi-asserted-by":"crossref","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, et al. Lymphocyte subsets in healthy children from birth through 18\u00a0years of age: the Pediatric AIDS clinical trial group P1009 Study. J Allergy Clin Immunol. 2003;112:973\u201380.","journal-title":"J Allergy Clin Immunol"},{"key":"2_CR14","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1136\/adc.2003.026880","volume":"89","author":"S \u00d3skarsd\u00f3ttir","year":"2004","unstructured":"\u00d3skarsd\u00f3ttir S, Vujic M, Fasth A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child. 2004;89:148\u201351.","journal-title":"Arch Dis Child"},{"key":"2_CR15","unstructured":"McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 deletion syndrome. In: Gene Reviews\u2122. 1999 [updated February 28, 2013]. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1523\/ . Accessed 4 Jan 2014."},{"key":"2_CR16","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1136\/jcp.2009.072074","volume":"63","author":"A Herdwadkar","year":"2010","unstructured":"Herdwadkar A, Gennery AR, Moran AS, et al. Association between hypoparathyreoidism and defective T cell immunity in 22q11.2 deletion syndrome. J Clin Pathol. 2010;63:151\u20135.","journal-title":"J Clin Pathol"},{"key":"2_CR17","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1007\/s10875-011-9569-8","volume":"31","author":"AF Jawad","year":"2011","unstructured":"Jawad AF, Luning Prak E, Boyer J, et al. A prospective study of influenza vaccination and a comparison of immunologic parameters in children and adults with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome, velocardiofacial syndrome). J Clin Immunol. 2011;31:927\u201335.","journal-title":"J Clin Immunol"},{"key":"2_CR18","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1016\/j.jpeds.2011.02.039","volume":"159","author":"AS Bassett","year":"2011","unstructured":"Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011;159:332\u20139.","journal-title":"J Pediatr"},{"key":"2_CR19","doi-asserted-by":"crossref","first-page":"1934","DOI":"10.1002\/ajmg.a.35484","volume":"158A","author":"AH Bj\u00f6rk","year":"2012","unstructured":"Bj\u00f6rk AH, \u00d3skarsd\u00f3ttir S, Andersson B, et al. Antibody deficiency in adults with 22q11.2 deletion syndrome. Am J Med Genet A. 2012;158A:1934\u201340.","journal-title":"Am J Med Genet A"},{"key":"2_CR20","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1136\/adc.86.6.422","volume":"86","author":"AR Gennery","year":"2002","unstructured":"Gennery AR, Barge D, O\u2019Sullivan JJ, et al. Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome. Arch Dis Child. 2002;86:422\u20135.","journal-title":"Arch Dis Child"},{"issue":"5","key":"2_CR21","doi-asserted-by":"crossref","first-page":"950","DOI":"10.1016\/j.jpeds.2012.06.018","volume":"161","author":"K Patel","year":"2012","unstructured":"Patel K, Akhter J, Kobrinsky L, et al. Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge syndrome. J Pediatr. 2012;161(5):950\u20133.","journal-title":"J Pediatr"},{"key":"2_CR22","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1007\/s00431-004-1577-8","volume":"164","author":"S \u00d3skarsd\u00f3ttir","year":"2005","unstructured":"\u00d3skarsd\u00f3ttir S, Persson C, Eriksson BO, Fasth A. Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur J Pediatr. 2005;164:146\u201353.","journal-title":"Eur J Pediatr"}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-014-0002-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10875-014-0002-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-014-0002-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,31]],"date-time":"2019-05-31T04:14:56Z","timestamp":1559276096000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10875-014-0002-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3,9]]},"references-count":22,"alternative-id":["2"],"URL":"https:\/\/doi.org\/10.1007\/s10875-014-0002-y","relation":{},"ISSN":["0271-9142","1573-2592"],"issn-type":[{"value":"0271-9142","type":"print"},{"value":"1573-2592","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,3,9]]}}}