{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T04:30:05Z","timestamp":1780547405232,"version":"3.54.1"},"reference-count":31,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"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":[[2020,1]]},"DOI":"10.1016\/j.jaci.2019.09.020","type":"journal-article","created":{"date-parts":[[2019,10,7]],"date-time":"2019-10-07T18:07:21Z","timestamp":1570471641000},"page":"358-367.e2","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":35,"title":["Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndrome"],"prefix":"10.1016","volume":"145","author":[{"given":"Joshua D.","family":"Bernstock","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arthur H.","family":"Totten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdel G.","family":"Elkahloun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kory R.","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna C.","family":"Hurst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederick","family":"Goldman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew K.","family":"Groves","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fady M.","family":"Mikhail","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2528-6976","authenticated-orcid":false,"given":"T. Prescott","family":"Atkinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaci.2019.09.020_bib1","doi-asserted-by":"crossref","first-page":"2203","DOI":"10.1002\/ajmg.a.40494","article-title":"22q and two: 22q11.2 deletion syndrome and coexisting conditions","volume":"176","author":"Cohen","year":"2018","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jaci.2019.09.020_bib2","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1016\/j.jaci.2007.08.013","article-title":"Complete DiGeorge syndrome associated with CHD7 mutation","volume":"120","author":"Sanka","year":"2007","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2019.09.020_bib3","doi-asserted-by":"crossref","first-page":"1366","DOI":"10.1016\/S0140-6736(03)14632-6","article-title":"Role of TBX1 in human del22q11.2 syndrome","volume":"362","author":"Yagi","year":"2003","journal-title":"Lancet"},{"key":"10.1016\/j.jaci.2019.09.020_bib4","doi-asserted-by":"crossref","first-page":"2454","DOI":"10.1093\/hmg\/ddy146","article-title":"Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder","volume":"27","author":"Liu","year":"2018","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jaci.2019.09.020_bib5","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1086\/301718","article-title":"Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype","volume":"62","author":"Gottlieb","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2019.09.020_bib6","doi-asserted-by":"crossref","first-page":"1826","DOI":"10.1002\/eji.201545814","article-title":"FOXN1 in thymus organogenesis and development","volume":"46","author":"Vaidya","year":"2016","journal-title":"Eur J Immunol"},{"key":"10.1016\/j.jaci.2019.09.020_bib7","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1001\/jama.2014.9132","article-title":"Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States","volume":"312","author":"Kwan","year":"2014","journal-title":"JAMA"},{"key":"10.1016\/j.jaci.2019.09.020_bib8","first-page":"7","article-title":"The 2015 IUIS phenotypic classification for primary immunodeficiencies","volume":"7","author":"Bousfiha","year":"2015","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2019.09.020_bib9","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/S1096-7192(02)00042-2","article-title":"Immune consequences of mutations in the human common gamma-chain gene","volume":"76","author":"Schmalstieg","year":"2002","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jaci.2019.09.020_bib10","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1016\/j.clim.2010.02.007","article-title":"Thymus transplantation","volume":"135","author":"Markert","year":"2010","journal-title":"Clin Immunol"},{"key":"10.1016\/j.jaci.2019.09.020_bib11","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1002\/ajmg.a.36895","article-title":"Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion","volume":"167A","author":"Tassano","year":"2015","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jaci.2019.09.020_bib12","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ydbio.2014.03.004","article-title":"Foxi transcription factors promote pharyngeal arch development by regulating formation of FGF signaling centers","volume":"390","author":"Edlund","year":"2014","journal-title":"Dev Biol"},{"key":"10.1016\/j.jaci.2019.09.020_bib13","first-page":"e51780","article-title":"Isolation, identification, and purification of murine thymic epithelial cells","volume":"90","author":"Xing","year":"2014","journal-title":"J Vis Exp"},{"key":"10.1016\/j.jaci.2019.09.020_bib14","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1016\/S0301-472X(02)00825-1","article-title":"Quantification of newly developed T cells in mice by real-time quantitative PCR of T-cell receptor rearrangement excision circles","volume":"30","author":"Broers","year":"2002","journal-title":"Exp Hematol"},{"key":"10.1016\/j.jaci.2019.09.020_bib15","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1016\/j.jaci.2003.07.003","article-title":"Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study","volume":"112","author":"Shearer","year":"2003","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2019.09.020_bib16","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/S0022-1759(01)00338-6","article-title":"Reference values for peripheral blood B-lymphocyte subpopulations: a basis for multiparametric immunophenotyping of abnormal lymphocytes","volume":"253","author":"Deneys","year":"2001","journal-title":"J Immunol Methods"},{"key":"10.1016\/j.jaci.2019.09.020_bib17","doi-asserted-by":"crossref","first-page":"4558","DOI":"10.1242\/dev.112672","article-title":"Fox transcription factors: from development to disease","volume":"143","author":"Golson","year":"2016","journal-title":"Development"},{"key":"10.1016\/j.jaci.2019.09.020_bib18","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.ydbio.2015.09.022","article-title":"The mouse Foxi3 transcription factor is necessary for the development of posterior placodes","volume":"409","author":"Birol","year":"2016","journal-title":"Dev Biol"},{"key":"10.1016\/j.jaci.2019.09.020_bib19","doi-asserted-by":"crossref","first-page":"1896","DOI":"10.1002\/stem.2363","article-title":"Foxi3 deficiency compromises hair follicle stem cell specification and activation","volume":"34","author":"Shirokova","year":"2016","journal-title":"Stem Cells"},{"key":"10.1016\/j.jaci.2019.09.020_bib20","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1111\/vde.12008","article-title":"Clinical and histological characterization of hair coat and glandular tissue of Chinese crested dogs","volume":"24","author":"Wiener","year":"2013","journal-title":"Vet Dermatol"},{"key":"10.1016\/j.jaci.2019.09.020_bib21","doi-asserted-by":"crossref","first-page":"1462","DOI":"10.1126\/science.1162525","article-title":"A mutation in hairless dogs implicates FOXI3 in ectodermal development","volume":"321","author":"Drogemuller","year":"2008","journal-title":"Science"},{"key":"10.1016\/j.jaci.2019.09.020_bib22","doi-asserted-by":"crossref","first-page":"5459","DOI":"10.1038\/s41598-017-05764-5","article-title":"The dental phenotype of hairless dogs with FOXI3 haploinsufficiency","volume":"7","author":"Kupczik","year":"2017","journal-title":"Sci Rep"},{"key":"10.1016\/j.jaci.2019.09.020_bib23","first-page":"69","article-title":"Microscopic observations of skin and lymphoid organs in the hairless dog derived from the Mexican hairless","volume":"40","author":"Fukuta","year":"1991","journal-title":"Jikken Dobutsu"},{"key":"10.1016\/j.jaci.2019.09.020_bib24","doi-asserted-by":"crossref","first-page":"3173","DOI":"10.1242\/dev.028902","article-title":"Tbx1 controls cardiac neural crest cell migration during arch artery development by regulating Gbx2 expression in the pharyngeal ectoderm","volume":"136","author":"Calmont","year":"2009","journal-title":"Development"},{"key":"10.1016\/j.jaci.2019.09.020_bib25","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1016\/j.ydbio.2010.01.020","article-title":"Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome","volume":"340","author":"van Bueren","year":"2010","journal-title":"Dev Biol"},{"key":"10.1016\/j.jaci.2019.09.020_bib26","doi-asserted-by":"crossref","first-page":"686","DOI":"10.4049\/jimmunol.1801540","article-title":"Identification of an intronic regulatory element necessary for tissue-specific expression of Foxn1 in thymic epithelial cells","volume":"203","author":"Larsen","year":"2019","journal-title":"J Immunol"},{"key":"10.1016\/j.jaci.2019.09.020_bib27","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.diff.2019.06.002","article-title":"Molecular regulatory networks of thymic epithelial cell differentiation","volume":"107","author":"Luan","year":"2019","journal-title":"Differentiation"},{"key":"10.1016\/j.jaci.2019.09.020_bib28","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/bs.ctdb.2016.08.002","article-title":"Tbx1: transcriptional and developmental functions","volume":"122","author":"Baldini","year":"2016","journal-title":"Curr Top Dev Biol"},{"key":"10.1016\/j.jaci.2019.09.020_bib29","doi-asserted-by":"crossref","first-page":"e1008301","DOI":"10.1371\/journal.pgen.1008301","article-title":"Tbx1 and Foxi3 genetically interact in the pharyngeal pouch endoderm in a mouse model for 22q11.2 deletion syndrome","volume":"15","author":"Hasten","year":"2019","journal-title":"PLoS Genet"},{"key":"10.1016\/j.jaci.2019.09.020_bib30","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1016\/j.ajhg.2019.07.014","article-title":"Heterozygous FOXN1 variants cause low TRECs and severe T cell lymphopenia, revealing a crucial role of FOXN1 in supporting early thymopoiesis","volume":"105","author":"Bosticardo","year":"2019","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2019.09.020_bib31","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1083\/jcb.201009141","article-title":"Dynamics of adherens junctions in epithelial establishment, maintenance, and remodeling","volume":"192","author":"Baum","year":"2011","journal-title":"J Cell Biol"}],"container-title":["Journal of Allergy and Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674919312564?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674919312564?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T09:25:00Z","timestamp":1758792300000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0091674919312564"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1]]},"references-count":31,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,1]]}},"alternative-id":["S0091674919312564"],"URL":"https:\/\/doi.org\/10.1016\/j.jaci.2019.09.020","relation":{},"ISSN":["0091-6749"],"issn-type":[{"value":"0091-6749","type":"print"}],"subject":[],"published":{"date-parts":[[2020,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndrome","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.2019.09.020","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 American Academy of Allergy, Asthma & Immunology","name":"copyright","label":"Copyright"}]}}