{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T23:56:05Z","timestamp":1761954965735,"version":"build-2065373602"},"reference-count":21,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jpeds.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pediatrics"],"published-print":{"date-parts":[[2009,1]]},"DOI":"10.1016\/j.jpeds.2008.07.049","type":"journal-article","created":{"date-parts":[[2008,12,12]],"date-time":"2008-12-12T04:25:46Z","timestamp":1229055946000},"page":"140-142","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"title":["Congenital T Cell Deficiency in a Patient with CHARGE Syndrome"],"prefix":"10.1016","volume":"154","author":[{"given":"Julie","family":"Hoover-Fong","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William J.","family":"Savage","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emily","family":"Lisi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jerry","family":"Winkelstein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George H.","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lies H.","family":"Hoefsloot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David M.","family":"Loeb","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jpeds.2008.07.049_bib1","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1177\/000992289803700302","article-title":"CHARGE association: an update and review for the primary pediatrician","volume":"37","author":"Blake","year":"1998","journal-title":"Clin Pediatr (Phila)"},{"key":"10.1016\/j.jpeds.2008.07.049_bib2","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1002\/ajmg.a.30559","article-title":"Updated diagnostic criteria for CHARGE syndrome: a proposal","volume":"133A","author":"Verloes","year":"2005","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jpeds.2008.07.049_bib3","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1002\/ajmg.a.30560","article-title":"An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study","volume":"133","author":"Issekutz","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jpeds.2008.07.049_bib4","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1136\/jmg.2005.036160","article-title":"Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development","volume":"43","author":"Sanlaville","year":"2006","journal-title":"J Med Genet"},{"key":"10.1016\/j.jpeds.2008.07.049_bib5","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1002\/1096-8628(20010301)99:2<124::AID-AJMG1114>3.0.CO;2-9","article-title":"Temporal bone anomaly proposed at major criteria for diagnosis of CHARGE syndrome","volume":"99","author":"Amiel","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jpeds.2008.07.049_bib6","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1086\/500273","article-title":"Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation","volume":"78","author":"Lalani","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jpeds.2008.07.049_bib7","doi-asserted-by":"crossref","first-page":"5621","DOI":"10.1210\/jc.2004-2474","article-title":"CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development","volume":"90","author":"Pinto","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.jpeds.2008.07.049_bib8","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1038\/sj.ejhg.5201778","article-title":"CHARGE syndrome: an update","volume":"15","author":"Sanlaville","year":"2007","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jpeds.2008.07.049_bib9","doi-asserted-by":"crossref","first-page":"43","DOI":"10.3121\/cmr.1.1.43","article-title":"Immune deficiency in CHARGE association","volume":"1","author":"Theordoropoulos","year":"2003","journal-title":"Clin Med Res"},{"key":"10.1016\/j.jpeds.2008.07.049_bib10","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1016\/S0344-0338(00)80031-X","article-title":"Malakoplakia of the colon in an infant with severe combined immunodeficiency (SCID) and charge association","volume":"196","author":"Boudny","year":"2000","journal-title":"Pathol Res Pract"},{"key":"10.1016\/j.jpeds.2008.07.049_bib11","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1016\/j.ejmg.2007.05.002","article-title":"Immunological abnormalities in CHARGE syndrome","volume":"50","author":"Writzl","year":"2007","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.jpeds.2008.07.049_bib12","series-title":"Management of genetic syndromes","first-page":"615","article-title":"Velo-cardio-facial syndrome","author":"Shprintzen","year":"2005"},{"author":"McDonald-McGinn","key":"10.1016\/j.jpeds.2008.07.049_bib13"},{"key":"10.1016\/j.jpeds.2008.07.049_bib14","doi-asserted-by":"crossref","first-page":"2041","DOI":"10.1093\/hmg\/ddg216","article-title":"TBX1 is required for inner ear morphogenesis","volume":"12","author":"Vitelli","year":"2003","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jpeds.2008.07.049_bib15","first-page":"4539","article-title":"Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants","volume":"109","author":"Markert","year":"2007","journal-title":"Transplantation"},{"key":"10.1016\/j.jpeds.2008.07.049_bib16","doi-asserted-by":"crossref","first-page":"1983","DOI":"10.1016\/S0140-6736(98)00094-4","article-title":"Immune constitution of complete DiGeorge anomaly by transplantation of unmobilised blood mononuclear cells","volume":"352","author":"Bowers","year":"1998","journal-title":"Lancet"},{"key":"10.1016\/j.jpeds.2008.07.049_bib17","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1046\/j.1365-2141.2002.03496.x","article-title":"T-cell constitution after peripheral blood mononuclear cell transplantation in complete DiGeorge syndrome","volume":"117","author":"Bensoussan","year":"2002","journal-title":"Br J Haematol"},{"key":"10.1016\/j.jpeds.2008.07.049_bib18","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1038\/ng1407","article-title":"Mutations in a new member of the chromodomain gene family cause CHARGE syndrome","volume":"36","author":"Vissers","year":"2004","journal-title":"Nat Genet"},{"key":"10.1016\/j.jpeds.2008.07.049_bib19","doi-asserted-by":"crossref","first-page":"11472","DOI":"10.1073\/pnas.94.21.11472","article-title":"Characterization of the CHD family of proteins","volume":"94","author":"Woodage","year":"1997","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jpeds.2008.07.049_bib20","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1006\/smim.1997.0091","article-title":"Restoration of T-cell homeostasis after T-cell depletion","volume":"9","author":"Mackall","year":"1997","journal-title":"Semin Immunol"},{"key":"10.1016\/j.jpeds.2008.07.049_bib21","doi-asserted-by":"crossref","first-page":"6571","DOI":"10.4049\/jimmunol.174.11.6571","article-title":"The many faces of IL-7: from lymphopoiesis to peripheral T cell maintenance","volume":"174","author":"Fry","year":"2005","journal-title":"J Immunol"}],"container-title":["The Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347608006276?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347608006276?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T08:51:31Z","timestamp":1758358291000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022347608006276"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,1]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009,1]]}},"alternative-id":["S0022347608006276"],"URL":"https:\/\/doi.org\/10.1016\/j.jpeds.2008.07.049","relation":{},"ISSN":["0022-3476"],"issn-type":[{"type":"print","value":"0022-3476"}],"subject":[],"published":{"date-parts":[[2009,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Congenital T Cell Deficiency in a Patient with CHARGE Syndrome","name":"articletitle","label":"Article Title"},{"value":"The Journal of Pediatrics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jpeds.2008.07.049","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2009 Mosby, Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}