{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T16:11:56Z","timestamp":1753891916570,"version":"3.41.2"},"reference-count":19,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2019,4,5]],"date-time":"2019-04-05T00:00:00Z","timestamp":1554422400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"DOI":"10.3389\/fped.2019.00055","type":"journal-article","created":{"date-parts":[[2019,4,5]],"date-time":"2019-04-05T14:13:55Z","timestamp":1554473635000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":11,"title":["Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening"],"prefix":"10.3389","volume":"7","author":[{"given":"Pooja","family":"Purswani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina Adelia","family":"Meehan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hye Sun","family":"Kuehn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yenhui","family":"Chang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph F.","family":"Dasso","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna K.","family":"Meyer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boglarka","family":"Ujhazi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krisztian","family":"Csomos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Lindsay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taylor","family":"Alberdi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonia","family":"Joychan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica","family":"Trotter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla","family":"Duff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maryssa","family":"Ellison","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jack","family":"Bleesing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Attila","family":"Kumanovics","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne M.","family":"Comeau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaime E.","family":"Hale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luigi D.","family":"Notarangelo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Troy R.","family":"Torgersen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans D.","family":"Ochs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Panida","family":"Sriaroon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benjamin","family":"Oshrine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksandra","family":"Petrovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergio D.","family":"Rosenzweig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer W.","family":"Leiding","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jolan E.","family":"Walter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2019,4,5]]},"reference":[{"volume-title":"Newborn Screening for Severe Combined Immunodeficiency in the United States","year":"2018","key":"B1"},{"volume-title":"IDF SCID Newborn Screening.","year":"2019","key":"B2"},{"key":"B3","doi-asserted-by":"publisher","first-page":"15061","DOI":"10.1038\/nrdp.2015.61","article-title":"Severe combined immunodeficiencies and related disorders","volume":"1","author":"Fischer","year":"2015","journal-title":"Nat Rev Dis Primers."},{"key":"B4","doi-asserted-by":"publisher","first-page":"634","DOI":"10.1016\/j.jaci.2016.05.036","article-title":"Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency","volume":"139","author":"Bacchelli","year":"2017","journal-title":"J Allergy Clin Immunol."},{"key":"B5","doi-asserted-by":"publisher","first-page":"336","DOI":"10.1007\/s10875-017-0391-9","article-title":"First case of X-linked moesin deficiency identified after newborn screening for SCID","volume":"37","author":"Delmonte","year":"2017","journal-title":"J Clin Immunol."},{"key":"B6","doi-asserted-by":"publisher","first-page":"2165","DOI":"10.1056\/NEJMoa1509164","article-title":"Multisystem anomalies in severe combined immunodeficiency with mutant BCL11B","volume":"375","author":"Punwani","year":"2016","journal-title":"N Engl J Med."},{"key":"B7","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1016\/j.jaci.2018.08.027","article-title":"The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018)","volume":"143","author":"Dvorak","year":"2019","journal-title":"J Allergy Clin Immunol."},{"key":"B8","doi-asserted-by":"publisher","first-page":"480","DOI":"10.1038\/nri2580","article-title":"New insights into the regulation of T cells by gamma(c) family cytokines","volume":"9","author":"Rochman","year":"2009","journal-title":"Nat Rev Immunol."},{"key":"B9","doi-asserted-by":"publisher","first-page":"852","DOI":"10.1016\/j.jaci.2018.08.024","article-title":"Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency","volume":"143","author":"Kohn","year":"2018","journal-title":"J Allergy Clin Immunol."},{"key":"B10","doi-asserted-by":"publisher","first-page":"1092","DOI":"10.1016\/j.jaci.2013.09.044","article-title":"Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience","volume":"133","author":"Shearer","year":"2014","journal-title":"J Allergy Clin Immunol."},{"key":"B11","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1007\/s00251-016-0949-3","article-title":"A novel deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype","volume":"69","author":"Mou","year":"2017","journal-title":"Immunogenetics."},{"key":"B12","article-title":"X-Linked Severe Combined Immunodeficiency","volume-title":"GeneReviews((R)).","author":"Allenspach","year":"1993"},{"key":"B13","first-page":"1968","article-title":"Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency","volume":"89","author":"Puck","year":"1997","journal-title":"Blood."},{"key":"B14","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med."},{"key":"B15","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1097\/ACI.0b013e3283328f59","article-title":"Mutation analysis in primary immunodeficiency diseases: case studies","volume":"9","author":"Hsu","year":"2009","journal-title":"Curr Opin Allergy Clin Immunol."},{"key":"B16","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1111\/iji.12166","article-title":"A novel intronic splice site deletion of the IL-2 receptor common gamma chain results in expression of a dysfunctional protein and T-cell-positive X-linked Severe combined immunodeficiency","volume":"42","author":"Gray","year":"2015","journal-title":"Int J Immunogenet."},{"key":"B17","doi-asserted-by":"publisher","first-page":"2967","DOI":"10.1182\/blood-2017-10-809822","article-title":"B-cell differentiation and IL-21 response in IL2RG\/JAK3 SCID patients after hematopoietic stem cell transplantation","volume":"131","author":"Miggelbrink","year":"2018","journal-title":"Blood."},{"key":"B18","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1097\/00125817-200003000-00004","article-title":"Molecular determination of X inactivation pattern correlates with phenotype in women with a structurally abnormal X chromosome","volume":"2","author":"Wolff","year":"2000","journal-title":"Genet Med."},{"key":"B19","doi-asserted-by":"publisher","first-page":"9.7.1","DOI":"10.1002\/0471142905.hg0907s35","article-title":"Detection of nonrandom X chromosome inactivation","volume":"35","author":"Thouin","year":"2002","journal-title":"Curr Protoc Hum Genet."}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fped.2019.00055\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,5]],"date-time":"2019-04-05T14:13:57Z","timestamp":1554473637000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fped.2019.00055\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,4,5]]},"references-count":19,"alternative-id":["10.3389\/fped.2019.00055"],"URL":"https:\/\/doi.org\/10.3389\/fped.2019.00055","relation":{},"ISSN":["2296-2360"],"issn-type":[{"type":"electronic","value":"2296-2360"}],"subject":[],"published":{"date-parts":[[2019,4,5]]},"article-number":"55"}}