{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T09:28:42Z","timestamp":1775899722608,"version":"3.50.1"},"reference-count":155,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,11,30]],"date-time":"2020-11-30T00:00:00Z","timestamp":1606694400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2020,11,30]],"date-time":"2020-11-30T00:00:00Z","timestamp":1606694400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100000769","name":"University of Oxford","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000769","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Semin Immunopathol"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>As the primary site for T cell development, the thymus is responsible for the production and selection of a functional, yet self-tolerant T cell repertoire. This critically depends on thymic stromal cells, derived from the pharyngeal apparatus during embryogenesis. Thymic epithelial cells, mesenchymal and vascular elements together form the unique and highly specialised microenvironment required to support all aspects of thymopoiesis and T cell central tolerance induction. Although rare, inborn errors of thymic stromal cells constitute a clinically important group of conditions because their immunological consequences, which include autoimmune disease and T cell immunodeficiency, can be life-threatening if unrecognised and untreated. In this review, we describe the molecular and environmental aetiologies of the thymic stromal cell defects known to cause disease in humans, placing particular emphasis on those with a propensity to cause thymic hypoplasia or aplasia and consequently severe congenital immunodeficiency. We discuss the principles underpinning their diagnosis and management, including the use of novel tools to aid in their identification and strategies for curative treatment, principally transplantation of allogeneic thymus tissue.<\/jats:p>","DOI":"10.1007\/s00281-020-00826-9","type":"journal-article","created":{"date-parts":[[2020,11,30]],"date-time":"2020-11-30T18:04:15Z","timestamp":1606759455000},"page":"85-100","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Inborn errors of thymic stromal cell development and function"],"prefix":"10.1007","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8748-5837","authenticated-orcid":false,"given":"Alexandra Y.","family":"Kreins","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9518-6466","authenticated-orcid":false,"given":"Stefano","family":"Maio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9244-2284","authenticated-orcid":false,"given":"Fatima","family":"Dhalla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,11,30]]},"reference":[{"issue":"1","key":"826_CR1","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1146\/annurev.immunol.26.021607.090408","volume":"26","author":"H-R Rodewald","year":"2008","unstructured":"Rodewald H-R (2008) Thymus Organogenesis. Annu Rev Immunol 26(1):355\u2013388","journal-title":"Annu Rev Immunol"},{"issue":"18","key":"826_CR2","doi-asserted-by":"crossref","first-page":"3865","DOI":"10.1242\/dev.059998","volume":"138","author":"J Gordon","year":"2011","unstructured":"Gordon J, Manley NR (2011) Mechanisms of thymus organogenesis and morphogenesis. Development 138(18):3865\u20133878","journal-title":"Development."},{"issue":"1","key":"826_CR3","doi-asserted-by":"crossref","first-page":"2461","DOI":"10.2741\/3866","volume":"16","author":"NRE Manley","year":"2011","unstructured":"Manley NRE, Blackburn C, Condie B, Sage J (2011) Structure and function of the thymic microenvironment. Front Biosci 16(1):2461","journal-title":"Front Biosci"},{"issue":"5","key":"826_CR4","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1038\/ni1064","volume":"5","author":"J Gordon","year":"2004","unstructured":"Gordon J, Wilson VA, Blair NF, Sheridan J, Farley A, Wilson L, Manley NR, Blackburn CC (2004) Functional evidence for a single endodermal origin for the thymic epithelium. Nat Immunol 5(5):546\u2013553","journal-title":"Nat Immunol"},{"issue":"6","key":"826_CR5","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1016\/j.it.2012.03.005","volume":"33","author":"G Anderson","year":"2012","unstructured":"Anderson G, Takahama Y (2012) Thymic epithelial cells: working class heroes for T cell development and repertoire selection. Trends Immunol 33(6):256\u2013263","journal-title":"Trends Immunol"},{"key":"826_CR6","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1146\/annurev-immunol-051116-052320","volume":"35","author":"J Abramson","year":"2017","unstructured":"Abramson J, Anderson G (2017) Thymic epithelial cells. Annu Rev Immunol 35:85\u2013118","journal-title":"Annu Rev Immunol"},{"issue":"2","key":"826_CR7","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1038\/nri1781","volume":"6","author":"Y Takahama","year":"2006","unstructured":"Takahama Y (2006) Journey through the thymus: stromal guides for T-cell development and selection. Nat Rev Immunol 6(2):127\u2013135","journal-title":"Nat Rev Immunol"},{"issue":"5","key":"826_CR8","doi-asserted-by":"crossref","first-page":"3183","DOI":"10.4049\/jimmunol.180.5.3183","volume":"180","author":"K Foster","year":"2008","unstructured":"Foster K, Sheridan J, Veiga-Fernandes H, Roderick K, Pachnis V, Adams R, Blackburn C, Kioussis D, Coles M (2008) Contribution of neural crest-derived cells in the embryonic and adult thymus. J Immunol 180(5):3183\u20133189","journal-title":"J Immunol"},{"key":"826_CR9","first-page":"14","volume":"27","author":"EH Norris","year":"1938","unstructured":"Norris EH (1938) The morphogenesis and histogenesis of the thymus gland in man: in which the origin of the Hassall\u2019s corpuscle of the human thymus is discovered. Contrib Embryol 27:14","journal-title":"Contrib Embryol"},{"issue":"9","key":"826_CR10","doi-asserted-by":"crossref","first-page":"2015","DOI":"10.1242\/dev.087320","volume":"140","author":"AM Farley","year":"2013","unstructured":"Farley AM, Morris LX, Vroegindeweij E, Depreter ML, Vaidya H, Stenhouse FH et al (2013) Dynamics of thymus organogenesis and colonization in early human development Development. 140(9):2015\u20132026","journal-title":"Development."},{"issue":"7","key":"826_CR11","doi-asserted-by":"crossref","first-page":"1989","DOI":"10.1242\/dev.121.7.1989","volume":"121","author":"NR Manley","year":"1995","unstructured":"Manley NR, Capecchi MR (1995) The role of Hoxa-3 in mouse thymus and thyroid development. Development 121(7):1989","journal-title":"Development."},{"issue":"1","key":"826_CR12","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1242\/dev.122.1.23","volume":"122","author":"J Wallin","year":"1996","unstructured":"Wallin J, Eibel H, Neubuser A, Wilting J, Koseki H, Balling R (1996) Pax1 is expressed during development of the thymus epithelium and is required for normal T-cell maturation Development. 122(1):23\u201330","journal-title":"Development."},{"issue":"4","key":"826_CR13","doi-asserted-by":"crossref","first-page":"1175","DOI":"10.1002\/1521-4141(200204)32:4<1175::AID-IMMU1175>3.0.CO;2-U","volume":"32","author":"C Hetzer-Egger","year":"2002","unstructured":"Hetzer-Egger C, Schorpp M, Haas-Assenbaum A, Balling R, Peters H, Boehm T (2002) Thymopoiesis requires Pax9 function in thymic epithelial cells. Eur J Immunol 32(4):1175\u20131181","journal-title":"Eur J Immunol"},{"issue":"2","key":"826_CR14","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1016\/j.ydbio.2005.12.015","volume":"293","author":"D Zou","year":"2006","unstructured":"Zou D, Silvius D, Davenport J, Grifone R, Maire P, Xu PX (2006) Patterning of the third pharyngeal pouch into thymus\/parathyroid by Six and Eya1. Dev Biol 293(2):499\u2013512","journal-title":"Dev Biol"},{"issue":"19","key":"826_CR15","doi-asserted-by":"crossref","first-page":"4387","DOI":"10.1242\/dev.02018","volume":"132","author":"H Xu","year":"2005","unstructured":"Xu H, Cerrato F, Baldini A (2005) Timed mutation and cell-fate mapping reveal reiterated roles of Tbx1 during embryogenesis, and a crucial function during segmentation of the pharyngeal system via regulation of endoderm expansion. Development 132(19):4387\u20134395","journal-title":"Development."},{"issue":"3","key":"826_CR16","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/85845","volume":"27","author":"LA Jerome","year":"2001","unstructured":"Jerome LA, Papaioannou VE (2001) DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet 27(3):286\u2013291","journal-title":"Nat Genet"},{"key":"826_CR17","doi-asserted-by":"crossref","first-page":"187","DOI":"10.3389\/fimmu.2013.00187","volume":"4","author":"R Romano","year":"2013","unstructured":"Romano R, Palamaro L, Fusco A, Giardino G, Gallo V, Del Vecchio L et al (2013) FOXN1: a master regulator gene of thymic epithelial development program. Front Immunol 4:187","journal-title":"Front Immunol"},{"key":"826_CR18","doi-asserted-by":"crossref","first-page":"1206","DOI":"10.1038\/ni.3537","volume":"17","author":"S \u017duklys","year":"2016","unstructured":"\u017duklys S, Handel A, Zhanybekova S, Govani F, Keller M, Maio S, Mayer CE, Teh HY, Hafen K, Gallone G, Barthlott T, Ponting CP, Holl\u00e4nder GA (2016) Foxn1 regulates key target genes essential for T cell development in postnatal thymic epithelial cells. Nat Immunol 17:1206\u20131215","journal-title":"Nat Immunol"},{"issue":"6","key":"826_CR19","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1016\/S1074-7613(02)00321-7","volume":"16","author":"AR Bennett","year":"2002","unstructured":"Bennett AR, Farley A, Blair NF, Gordon J, Sharp L, Blackburn CC (2002) Identification and characterization of thymic epithelial progenitor cells. Immunity 16(6):803\u2013814","journal-title":"Immunity."},{"issue":"7096","key":"826_CR20","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1038\/nature04813","volume":"441","author":"SW Rossi","year":"2006","unstructured":"Rossi SW, Jenkinson WE, Anderson G, Jenkinson EJ (2006) Clonal analysis reveals a common progenitor for thymic cortical and medullary epithelium. Nature 441(7096):988\u2013991","journal-title":"Nature."},{"key":"826_CR21","doi-asserted-by":"crossref","first-page":"365","DOI":"10.3389\/fimmu.2015.00365","volume":"6","author":"N Lopes","year":"2015","unstructured":"Lopes N, Serge A, Ferrier P, Irla M (2015) Thymic crosstalk coordinates medulla organization and T-cell tolerance induction. Front Immunol 6:365","journal-title":"Front Immunol"},{"issue":"1","key":"826_CR22","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1182\/blood-2009-03-211029","volume":"114","author":"PL Poliani","year":"2009","unstructured":"Poliani PL, Facchetti F, Ravanini M, Gennery AR, Villa A, Roifman CM, Notarangelo LD (2009) Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome. Blood 114(1):105\u2013108","journal-title":"Blood."},{"issue":"6512","key":"826_CR23","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1038\/373350a0","volume":"373","author":"GA Hollander","year":"1995","unstructured":"Hollander GA, Wang B, Nichogiannopoulou A, Platenburg PP, van Ewijk W, Burakoff SJ et al (1995) Developmental control point in induction of thymic cortex regulated by a subpopulation of prothymocytes. Nature 373(6512):350\u2013353","journal-title":"Nature."},{"key":"826_CR24","doi-asserted-by":"crossref","first-page":"278","DOI":"10.3389\/fimmu.2012.00278","volume":"3","author":"T Akiyama","year":"2012","unstructured":"Akiyama T, Shinzawa M, Akiyama N (2012) TNF receptor family signaling in the development and functions of medullary thymic epithelial cells. Front Immunol 3:278","journal-title":"Front Immunol"},{"key":"826_CR25","doi-asserted-by":"crossref","first-page":"81","DOI":"10.3389\/fimmu.2015.00081","volume":"6","author":"C Pignata","year":"2015","unstructured":"Pignata C, D'Assante R, Sousa AE (2015) Thymic stromal alterations and genetic disorders of immune system. Front Immunol 6:81","journal-title":"Front Immunol"},{"issue":"4","key":"826_CR26","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1016\/j.jaci.2004.01.766","volume":"113","author":"ML Markert","year":"2004","unstructured":"Markert ML, Alexieff MJ, Li J, Sarzotti M, Ozaki DA, Devlin BH et al (2004) Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases. J Allergy Clin Immunol 113(4):734\u2013741","journal-title":"J Allergy Clin Immunol"},{"issue":"1","key":"826_CR27","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1111\/j.1365-2249.2008.03681.x","volume":"153","author":"AR Gennery","year":"2008","unstructured":"Gennery AR, Slatter MA, Rice J, Hoefsloot LH, Barge D, McLean-Tooke A, Montgomery T, Goodship JA, Burt AD, Flood TJ, Abinun M, Cant AJ, Johnson D (2008) Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome. Clin Exp Immunol 153(1):75\u201380","journal-title":"Clin Exp Immunol"},{"issue":"7504","key":"826_CR28","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.1016\/S0140-6736(67)91808-9","volume":"1","author":"AM Di George","year":"1967","unstructured":"Di George AM, Lischner HW, Dacou C, Arey JB (1967) Absence of the thymus. Lancet 1(7504):1387","journal-title":"Lancet."},{"key":"826_CR29","doi-asserted-by":"crossref","first-page":"15071","DOI":"10.1038\/nrdp.2015.71","volume":"1","author":"DM McDonald-McGinn","year":"2015","unstructured":"McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA et al (2015) 22q11.2 deletion syndrome. Nat Rev Dis Primers 1:15071","journal-title":"Nat Rev Dis Primers"},{"issue":"24","key":"826_CR30","doi-asserted-by":"crossref","first-page":"2586","DOI":"10.1182\/blood.2018885244","volume":"133","author":"G Giardino","year":"2019","unstructured":"Giardino G, Radwan N, Koletsi P, Morrogh DM, Adams S, Ip W, Worth A, Jones A, Meyer-Parsonson I, Gaspar HB, Gilmour K, Davies EG, Ladomenou F (2019) Clinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single center. Blood 133(24):2586\u20132596","journal-title":"Blood."},{"issue":"6","key":"826_CR31","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1097\/00008480-199412000-00016","volume":"6","author":"DA Driscoll","year":"1994","unstructured":"Driscoll DA (1994) Genetic basis of DiGeorge and velocardiofacial syndromes. Curr Opin Pediatr 6(6):702\u2013706","journal-title":"Curr Opin Pediatr"},{"key":"826_CR32","doi-asserted-by":"crossref","first-page":"3112","DOI":"10.1016\/j.jaip.2020.06.051","volume":"8","author":"E Cirillo","year":"2020","unstructured":"Cirillo E, Prencipe MR, Giardino G, Romano R, Scalia G, Genesio R et al (2020) Clinical phenotype, immunological abnormalities and genomic findings in patients with DiGeorge spectrum phenotype without 22q11.2 deletion. J Allergy Clin Immunol Pract 8:3112\u20133120","journal-title":"J Allergy Clin Immunol Pract"},{"issue":"4","key":"826_CR33","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1016\/j.jpeds.2013.12.013","volume":"164","author":"S Ferrando-Martinez","year":"2014","unstructured":"Ferrando-Martinez S, Lorente R, Gurbindo D, De Jose MI, Leal M, Munoz-Fernandez MA et al (2014) Low thymic output, peripheral homeostasis deregulation, and hastened regulatory T cells differentiation in children with 22q11.2 deletion syndrome. J Pediatr 164(4):882\u2013889","journal-title":"J Pediatr"},{"key":"826_CR34","doi-asserted-by":"crossref","first-page":"322","DOI":"10.3389\/fimmu.2013.00322","volume":"4","author":"EG Davies","year":"2013","unstructured":"Davies EG (2013) Immunodeficiency in DiGeorge syndrome and options for treating cases with complete athymia. Front Immunol 4:322","journal-title":"Front Immunol"},{"issue":"3","key":"826_CR35","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.1182\/blood-2003-08-2824","volume":"103","author":"LM Piliero","year":"2004","unstructured":"Piliero LM, Sanford AN, McDonald-McGinn DM, Zackai EH, Sullivan KE (2004) T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome. Blood 103(3):1020\u20131025","journal-title":"Blood."},{"issue":"2","key":"826_CR36","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1046\/j.1365-2249.2003.02134.x","volume":"132","author":"M Pierdominici","year":"2003","unstructured":"Pierdominici M, Mazzetta F, Caprini E, Marziali M, Digilio MC, Marino B et al (2003) Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome\/velocardiofacial syndrome). Clin Exp Immunol 132(2):323\u2013331","journal-title":"Clin Exp Immunol"},{"issue":"3","key":"826_CR37","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1007\/s10875-005-4085-3","volume":"25","author":"C Cancrini","year":"2005","unstructured":"Cancrini C, Romiti ML, Finocchi A, Di Cesare S, Ciaffi P, Capponi C et al (2005) Post-natal ontogenesis of the T-cell receptor CD4 and CD8 Vbeta repertoire and immune function in children with DiGeorge syndrome. J Clin Immunol 25(3):265\u2013274","journal-title":"J Clin Immunol"},{"issue":"6","key":"826_CR38","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1111\/j.1365-3083.2011.02527.x","volume":"73","author":"A McLean-Tooke","year":"2011","unstructured":"McLean-Tooke A, Barge D, Spickett GP, Gennery AR (2011) Flow cytometric analysis of TCR Vbeta repertoire in patients with 22q11.2 deletion syndrome. Scand J Immunol 73(6):577\u2013585","journal-title":"Scand J Immunol"},{"issue":"8","key":"826_CR39","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1136\/jmg.33.8.719","volume":"33","author":"S Tezenas Du Montcel","year":"1996","unstructured":"Tezenas Du Montcel S, Mendizabai H, Ayme S, Levy A, Philip N (1996) Prevalence of 22q11 microdeletion. J Med Genet 33(8):719","journal-title":"J Med Genet"},{"issue":"9","key":"826_CR40","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1136\/jmg.35.9.789-a","volume":"35","author":"K Devriendt","year":"1998","unstructured":"Devriendt K, Fryns JP, Mortier G, van Thienen MN, Keymolen K (1998) The annual incidence of DiGeorge\/velocardiofacial syndrome. J Med Genet 35(9):789\u2013790","journal-title":"J Med Genet"},{"issue":"4","key":"826_CR41","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1136\/adc.79.4.348","volume":"79","author":"J Goodship","year":"1998","unstructured":"Goodship J, Cross I, LiLing J, Wren C (1998) A population study of chromosome 22q11 deletions in infancy. Arch Dis Child 79(4):348\u2013351","journal-title":"Arch Dis Child"},{"issue":"2","key":"826_CR42","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1136\/adc.2003.026880","volume":"89","author":"S Oskarsdottir","year":"2004","unstructured":"Oskarsdottir S, Vujic M, Fasth A (2004) Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child 89(2):148\u2013151","journal-title":"Arch Dis Child"},{"issue":"10","key":"826_CR43","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1136\/jmg.34.10.798","volume":"34","author":"AK Ryan","year":"1997","unstructured":"Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brondum-Nielsen K, Scambler PJ (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34(10):798\u2013804","journal-title":"J Med Genet"},{"issue":"6","key":"826_CR44","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1016\/j.jpeds.2014.01.056","volume":"164","author":"C Cancrini","year":"2014","unstructured":"Cancrini C, Puliafito P, Digilio MC, Soresina A, Martino S, Rondelli R, Consolini R, Ruga EM, Cardinale F, Finocchi A, Romiti ML, Martire B, Bacchetta R, Albano V, Carotti A, Specchia F, Montin D, Cirillo E, Cocchi G, Trizzino A, Bossi G, Milanesi O, Azzari C, Corsello G, Pignata C, Aiuti A, Pietrogrande MC, Marino B, Ugazio AG, Plebani A, Rossi P (2014) Clinical features and follow-up in patients with 22q11.2 deletion syndrome. J Pediatr 164(6):1475\u20131480 e2","journal-title":"J Pediatr"},{"issue":"4","key":"826_CR45","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1086\/302343","volume":"64","author":"L Edelmann","year":"1999","unstructured":"Edelmann L, Pandita RK, Morrow BE (1999) Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am J Hum Genet 64(4):1076\u20131086","journal-title":"Am J Hum Genet"},{"issue":"4","key":"826_CR46","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1093\/hmg\/9.4.489","volume":"9","author":"TH Shaikh","year":"2000","unstructured":"Shaikh TH, Kurahashi H, Saitta SC, O'Hare AM, Hu P, Roe BA, Driscoll DA, McDonald-McGinn D, Zackai EH, Budarf ML, Emanuel BS (2000) Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum Mol Genet 9(4):489\u2013501","journal-title":"Hum Mol Genet"},{"issue":"4","key":"826_CR47","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1093\/hmg\/ddh041","volume":"13","author":"SC Saitta","year":"2004","unstructured":"Saitta SC, Harris SE, Gaeth AP, Driscoll DA, McDonald-McGinn DM, Maisenbacher MK et al (2004) Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Hum Mol Genet 13(4):417\u2013428","journal-title":"Hum Mol Genet"},{"issue":"10","key":"826_CR48","doi-asserted-by":"crossref","first-page":"2082","DOI":"10.1002\/ajmg.a.38597","volume":"176","author":"B Crowley","year":"2018","unstructured":"Crowley B, Ruffner M, McDonald McGinn DM, Sullivan KE (2018) Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome. Am J Med Genet A 176(10):2082\u20132086","journal-title":"Am J Med Genet A"},{"issue":"9","key":"826_CR49","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1136\/jmg.32.9.746","volume":"32","author":"J Goodship","year":"1995","unstructured":"Goodship J, Cross I, Scambler P, Burn J (1995) Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J Med Genet 32(9):746\u2013748","journal-title":"J Med Genet"},{"issue":"11","key":"826_CR50","doi-asserted-by":"crossref","DOI":"10.1136\/bmjopen-2014-005041","volume":"4","author":"GM Repetto","year":"2014","unstructured":"Repetto GM, Guzman ML, Delgado I, Loyola H, Palomares M, Lay-Son G et al (2014) Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study. BMJ Open 4(11):e005041","journal-title":"BMJ Open"},{"issue":"1","key":"826_CR51","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1038\/gim.2013.71","volume":"16","author":"EN Cheung","year":"2014","unstructured":"Cheung EN, George SR, Andrade DM, Chow EW, Silversides CK, Bassett AS (2014) Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome. Genet Med 16(1):40\u201344","journal-title":"Genet Med"},{"issue":"4","key":"826_CR52","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1002\/ajmg.a.30984","volume":"138","author":"AS Bassett","year":"2005","unstructured":"Bassett AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, Gatzoulis MA (2005) Clinical features of 78 adults with 22q11 Deletion Syndrome. Am J Med Genet A 138(4):307\u2013313","journal-title":"Am J Med Genet A"},{"issue":"1","key":"826_CR53","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1097\/00125817-200101000-00005","volume":"3","author":"SA Weinzimer","year":"2001","unstructured":"Weinzimer SA (2001) Endocrine aspects of the 22q11.2 deletion syndrome. Genet Med 3(1):19\u201322","journal-title":"Genet Med"},{"key":"826_CR54","doi-asserted-by":"crossref","first-page":"447","DOI":"10.3389\/fimmu.2019.00447","volume":"10","author":"GE Marcovecchio","year":"2019","unstructured":"Marcovecchio GE, Bortolomai I, Ferrua F, Fontana E, Imberti L, Conforti E, Amodio D, Bergante S, Macchiarulo G, D'Oria V, Conti F, di Cesare S, Fousteri G, Carotti A, Giamberti A, Poliani PL, Notarangelo LD, Cancrini C, Villa A, Bosticardo M (2019) Thymic epithelium abnormalities in DiGeorge and Down syndrome patients contribute to dysregulation in T cell development. Front Immunol 10:447","journal-title":"Front Immunol"},{"issue":"3","key":"826_CR55","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1111\/j.1399-3038.2005.00259.x","volume":"16","author":"L Staple","year":"2005","unstructured":"Staple L, Andrews T, McDonald-McGinn D, Zackai E, Sullivan KE (2005) Allergies in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome\/velocardiofacial syndrome) and patients with chronic granulomatous disease. Pediatr Allergy Immunol 16(3):226\u2013230","journal-title":"Pediatr Allergy Immunol"},{"issue":"3","key":"826_CR56","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1067\/mai.2003.165","volume":"111","author":"J Chinen","year":"2003","unstructured":"Chinen J, Rosenblatt HM, Smith EO, Shearer WT, Noroski LM (2003) Long-term assessment of T-cell populations in DiGeorge syndrome. J Allergy Clin Immunol 111(3):573\u2013579","journal-title":"J Allergy Clin Immunol"},{"issue":"6","key":"826_CR57","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1007\/s10875-011-9569-8","volume":"31","author":"AF Jawad","year":"2011","unstructured":"Jawad AF, Prak EL, Boyer J, McDonald-McGinn DM, Zackai E, McDonald K et al (2011) 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 31(6):927\u2013935","journal-title":"J Clin Immunol"},{"issue":"5","key":"826_CR58","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, Kobrynski L, Benjamin Gathmann MA, Davis O, Sullivan KE, International DiGeorge Syndrome Immunodeficiency Consortium (2012) Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge syndrome. J Pediatr 161(5):950\u2013953","journal-title":"J Pediatr"},{"issue":"5","key":"826_CR59","first-page":"1129","volume":"9","author":"KE Sullivan","year":"2002","unstructured":"Sullivan KE, McDonald-McGinn D, Zackai EH (2002) CD4(+) CD25(+) T-cell production in healthy humans and in patients with thymic hypoplasia. Clin Diagn Lab Immunol 9(5):1129\u20131131","journal-title":"Clin Diagn Lab Immunol"},{"issue":"2","key":"826_CR60","doi-asserted-by":"crossref","first-page":"690","DOI":"10.1016\/j.jaip.2017.08.028","volume":"6","author":"KE Sullivan","year":"2018","unstructured":"Sullivan KE, Crowley TB, Maurer K, Goldmuntz E, Gaynor JW, Zackai E, McDonald-McGinn D (2018) T-cell lymphopenia in 22q11.2 deletion syndrome: relationship to cardiac disease. J Allergy Clin Immunol Pract 6(2):690\u2013691","journal-title":"J Allergy Clin Immunol Pract"},{"issue":"2","key":"826_CR61","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1136\/jcp.2009.072074","volume":"63","author":"A Herwadkar","year":"2010","unstructured":"Herwadkar A, Gennery AR, Moran AS, Haeney MR, Arkwright PD (2010) Association between hypoparathyroidism and defective T cell immunity in 22q11.2 deletion syndrome. J Clin Pathol 63(2):151\u2013155","journal-title":"J Clin Pathol"},{"issue":"9393","key":"826_CR62","doi-asserted-by":"crossref","first-page":"1366","DOI":"10.1016\/S0140-6736(03)14632-6","volume":"362","author":"H Yagi","year":"2003","unstructured":"Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura SI, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N, Matsuoka R (2003) Role of TBX1 in human del22q11.2 syndrome. Lancet 362(9393):1366\u20131373","journal-title":"Lancet."},{"issue":"3","key":"826_CR63","doi-asserted-by":"crossref","first-page":"e91598","DOI":"10.1371\/journal.pone.0091598","volume":"9","author":"T Ogata","year":"2014","unstructured":"Ogata T, Niihori T, Tanaka N, Kawai M, Nagashima T, Funayama R et al (2014) TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia. PLoS One 9(3):e91598","journal-title":"PLoS One"},{"issue":"3","key":"826_CR64","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1297\/cpe.27.159","volume":"27","author":"K Hasegawa","year":"2018","unstructured":"Hasegawa K, Tanaka H, Higuchi Y, Hayashi Y, Kobayashi K, Tsukahara H (2018) Novel heterozygous mutation in TBX1 in an infant with hypocalcemic seizures. Clin Pediatr Endocrinol 27(3):159\u2013164","journal-title":"Clin Pediatr Endocrinol"},{"issue":"2","key":"826_CR65","doi-asserted-by":"crossref","first-page":"bvz028","DOI":"10.1210\/jendso\/bvz028","volume":"4","author":"M Alghamdi","year":"2020","unstructured":"Alghamdi M, Al Khalifah R, Al Homyani DK, Alkhamis WH, Arold ST, Ekhzaimy A et al (2020) A novel TBX1 variant causing hypoparathyroidism and deafness. J Endocr Soc 4(2):bvz028","journal-title":"J Endocr Soc"},{"issue":"3","key":"826_CR66","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1086\/511993","volume":"80","author":"C Zweier","year":"2007","unstructured":"Zweier C, Sticht H, Aydin-Yaylagul I, Campbell CE, Rauch A (2007) Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Am J Hum Genet 80(3):510\u2013517","journal-title":"Am J Hum Genet"},{"key":"826_CR67","doi-asserted-by":"crossref","first-page":"11688","DOI":"10.1038\/ncomms11688","volume":"7","author":"FG Fulcoli","year":"2016","unstructured":"Fulcoli FG, Franzese M, Liu X, Zhang Z, Angelini C, Baldini A (2016) Rebalancing gene haploinsufficiency in vivo by targeting chromatin. Nat Commun 7:11688","journal-title":"Nat Commun"},{"key":"826_CR68","doi-asserted-by":"crossref","first-page":"1365","DOI":"10.3389\/fgene.2019.01365","volume":"10","author":"Q Du","year":"2019","unstructured":"Du Q, de la Morena MT, van Oers NSC (2019) The genetics and epigenetics of 22q11.2 deletion syndrome. Front Genet 10:1365","journal-title":"Front Genet"},{"key":"826_CR69","doi-asserted-by":"crossref","first-page":"830","DOI":"10.3389\/fimmu.2020.00830","volume":"11","author":"P Bhalla","year":"2020","unstructured":"Bhalla P, Wysocki CA, van Oers NSC (2020) Molecular insights into the causes of human thymic hypoplasia with animal models. Front Immunol 11:830","journal-title":"Front Immunol"},{"issue":"4","key":"826_CR70","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1161\/CIRCRESAHA.109.215319","volume":"106","author":"KE Yutzey","year":"2010","unstructured":"Yutzey KE (2010) DiGeorge syndrome, Tbx1, and retinoic acid signaling come full circle. Circ Res 106(4):630\u2013632","journal-title":"Circ Res"},{"issue":"11","key":"826_CR71","first-page":"3301","volume":"119","author":"V Randall","year":"2009","unstructured":"Randall V, McCue K, Roberts C, Kyriakopoulou V, Beddow S, Barrett AN, Vitelli F, Prescott K, Shaw-Smith C, Devriendt K, Bosman E, Steffes G, Steel KP, Simrick S, Basson MA, Illingworth E, Scambler PJ (2009) Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice. J Clin Invest 119(11):3301\u20133310","journal-title":"J Clin Invest"},{"issue":"6","key":"826_CR72","doi-asserted-by":"crossref","first-page":"1660","DOI":"10.1016\/j.jaci.2017.03.020","volume":"140","author":"EG Davies","year":"2017","unstructured":"Davies EG, Cheung M, Gilmour K, Maimaris J, Curry J, Furmanski A, Sebire N, Halliday N, Mengrelis K, Adams S, Bernatoniene J, Bremner R, Browning M, Devlin B, Erichsen HC, Gaspar HB, Hutchison L, Ip W, Ifversen M, Leahy TR, McCarthy E, Moshous D, Neuling K, Pac M, Papadopol A, Parsley KL, Poliani L, Ricciardelli I, Sansom DM, voor T, Worth A, Crompton T, Markert ML, Thrasher AJ (2017) Thymus transplantation for complete DiGeorge syndrome: European experience. J Allergy Clin Immunol 140(6):1660\u20131670 e16","journal-title":"J Allergy Clin Immunol"},{"issue":"6","key":"826_CR73","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1093\/hmg\/ddr553","volume":"21","author":"K Mesbah","year":"2012","unstructured":"Mesbah K, Rana MS, Francou A, van Duijvenboden K, Papaioannou VE, Moorman AF, Kelly RG, Christoffels VM (2012) Identification of a Tbx1\/Tbx2\/Tbx3 genetic pathway governing pharyngeal and arterial pole morphogenesis. Hum Mol Genet 21(6):1217\u20131229","journal-title":"Hum Mol Genet"},{"issue":"14","key":"826_CR74","doi-asserted-by":"crossref","first-page":"2454","DOI":"10.1093\/hmg\/ddy146","volume":"27","author":"N Liu","year":"2018","unstructured":"Liu N, Schoch K, Luo X, Pena LDM, Bhavana VH, Kukolich MK, Stringer S, Powis Z, Radtke K, Mroske C, Deak KL, McDonald MT, McConkie-Rosell A, Markert ML, Kranz PG, Stong N, Need AC, Bick D, Amaral MD, Worthey EA, Levy S, Undiagnosed Diseases Network (UDN), Wangler MF, Bellen HJ, Shashi V, Yamamoto S (2018) Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. Hum Mol Genet 27(14):2454\u20132465","journal-title":"Hum Mol Genet"},{"issue":"4","key":"826_CR75","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1038\/ng0896-458","volume":"13","author":"SC Daw","year":"1996","unstructured":"Daw SC, Taylor C, Kraman M, Call K, Mao J, Schuffenhauer S et al (1996) A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. Nat Genet 13(4):458\u2013460","journal-title":"Nat Genet"},{"issue":"1","key":"826_CR76","first-page":"59","volume":"10","author":"H Van Esch","year":"1999","unstructured":"Van Esch H, Groenen P, Fryns JP, Van de Ven W, Devriendt K (1999) The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome. Genet Couns 10(1):59\u201365","journal-title":"Genet Couns"},{"issue":"3","key":"826_CR77","first-page":"162","volume":"38","author":"S Schuffenhauer","year":"1995","unstructured":"Schuffenhauer S, Seidel H, Oechsler H, Belohradsky B, Bernsau U, Murken J, Meitinger T (1995) DiGeorge syndrome and partial monosomy 10p: case report and review. Ann Genet 38(3):162\u2013167","journal-title":"Ann Genet"},{"issue":"1","key":"826_CR78","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1002\/ajmg.1320520107","volume":"52","author":"M Shapira","year":"1994","unstructured":"Shapira M, Borochowitz Z, Bar-El H, Dar H, Etzioni A, Lorber A (1994) Deletion of the short arm of chromosome 10 (10p13): report of a patient and review. Am J Med Genet 52(1):34\u201338","journal-title":"Am J Med Genet"},{"issue":"5","key":"826_CR79","doi-asserted-by":"crossref","first-page":"1268","DOI":"10.1002\/ajmg.a.37559","volume":"170A","author":"RM Fernandez","year":"2016","unstructured":"Fernandez RM, Sanchez J, Garcia-Diaz L, Pelaez-Nora Y, Gonzalez-Meneses A, Antinolo G et al (2016) Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations. Am J Med Genet A 170A(5):1268\u20131273","journal-title":"Am J Med Genet A"},{"issue":"2","key":"826_CR80","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1086\/301718","volume":"62","author":"S Gottlieb","year":"1998","unstructured":"Gottlieb S, Driscoll DA, Punnett HH, Sellinger B, Emanuel BS, Budarf ML (1998) Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype. Am J Hum Genet 62(2):495\u2013498","journal-title":"Am J Hum Genet"},{"issue":"3","key":"826_CR81","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1038\/sj.ejhg.5200183","volume":"6","author":"S Schuffenhauer","year":"1998","unstructured":"Schuffenhauer S, Lichtner P, Peykar-Derakhshandeh P, Murken J, Haas OA, Back E, Wolff G, Zabel B, Barisic I, Rauch A, Borochowitz Z, Dallapiccola B, Ross M, Meitinger T (1998) Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2). Eur J Hum Genet 6(3):213\u2013225","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"826_CR82","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1136\/jmg.37.1.33","volume":"37","author":"P Lichtner","year":"2000","unstructured":"Lichtner P, Konig R, Hasegawa T, Van Esch H, Meitinger T, Schuffenhauer S (2000) An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13\/14. J Med Genet 37(1):33\u201337","journal-title":"J Med Genet"},{"issue":"4","key":"826_CR83","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1002\/(SICI)1096-8628(19971231)73:4<416::AID-AJMG9>3.0.CO;2-L","volume":"73","author":"T Hasegawa","year":"1997","unstructured":"Hasegawa T, Hasegawa Y, Aso T, Koto S, Nagai T, Tsuchiya Y, Kim KC, Ohashi H, Wakui K, Fukushima Y (1997) HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13). Am J Med Genet 73(4):416\u2013418","journal-title":"Am J Med Genet"},{"issue":"7","key":"826_CR84","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1007\/s00109-002-0331-9","volume":"80","author":"P Lichtner","year":"2002","unstructured":"Lichtner P, Attie-Bitach T, Schuffenhauer S, Henwood J, Bouvagnet P, Scambler PJ et al (2002) Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p. J Mol Med (Berl) 80(7):431\u2013442","journal-title":"J Mol Med (Berl)"},{"issue":"2","key":"826_CR85","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/S0022-3476(81)80454-4","volume":"99","author":"RA Pagon","year":"1981","unstructured":"Pagon RA, Graham JM, Zonana J, Yong S-L (1981) Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 99(2):223\u2013227","journal-title":"J Pediatr"},{"issue":"8","key":"826_CR86","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.1002\/humu.22086","volume":"33","author":"N Janssen","year":"2012","unstructured":"Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J et al (2012) Mutation update on the CHD7 gene involved in CHARGE syndrome. Hum Mutat 33(8):1149\u20131160","journal-title":"Hum Mutat"},{"issue":"4","key":"826_CR87","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1002\/ajmg.c.31594","volume":"175","author":"S Mehr","year":"2017","unstructured":"Mehr S, Hsu P, Campbell D (2017) Immunodeficiency in CHARGE syndrome. Am J Med Genet C: Semin Med Genet 175(4):516\u2013523","journal-title":"Am J Med Genet C: Semin Med Genet"},{"issue":"9","key":"826_CR88","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1038\/ng1407","volume":"36","author":"LE Vissers","year":"2004","unstructured":"Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM et al (2004) Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36(9):955\u2013957","journal-title":"Nat Genet"},{"issue":"10","key":"826_CR89","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1016\/j.tig.2015.05.009","volume":"31","author":"MA Basson","year":"2015","unstructured":"Basson MA, van Ravenswaaij-Arts C (2015) Functional insights into chromatin remodelling from studies on CHARGE syndrome. Trends Genet 31(10):600\u2013611","journal-title":"Trends Genet"},{"issue":"3","key":"826_CR90","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1136\/jmg.2005.036160","volume":"43","author":"D Sanlaville","year":"2006","unstructured":"Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clement-Ziza M, Delezoide AL et al (2006) Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet 43(3):211\u2013217","journal-title":"J Med Genet"},{"issue":"4","key":"826_CR91","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1016\/j.ajpath.2017.12.005","volume":"188","author":"ZZ Liu","year":"2018","unstructured":"Liu ZZ, Wang ZL, Choi TI, Huang WT, Wang HT, Han YY, Zhu LY, Kim HT, Choi JH, Lee JS, Kim HG, Zhao J, Chen Y, Lu Z, Tian XL, Pan BX, Li BM, Kim CH, Xu HA (2018) Chd7 Is Critical for Early T-Cell Development and Thymus Organogenesis in Zebrafish. Am J Pathol 188(4):1043\u20131058","journal-title":"Am J Pathol"},{"issue":"8","key":"826_CR92","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1002\/humu.22106","volume":"33","author":"JE Bergman","year":"2012","unstructured":"Bergman JE, Janssen N, van der Sloot AM, de Walle HE, Schoots J, Rendtorff ND et al (2012) A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome. Hum Mutat 33(8):1251\u20131260","journal-title":"Hum Mutat"},{"issue":"11","key":"826_CR93","doi-asserted-by":"crossref","first-page":"1451","DOI":"10.1038\/ejhg.2015.7","volume":"23","author":"MT Wong","year":"2015","unstructured":"Wong MT, Scholvinck EH, Lambeck AJ, van Ravenswaaij-Arts CM (2015) CHARGE syndrome: a review of the immunological aspects. Eur J Hum Genet 23(11):1451\u20131459","journal-title":"Eur J Hum Genet"},{"issue":"5","key":"826_CR94","doi-asserted-by":"crossref","first-page":"e871","DOI":"10.1542\/peds.2008-3400","volume":"123","author":"S Jyonouchi","year":"2009","unstructured":"Jyonouchi S, McDonald-McGinn DM, Bale S, Zackai EH, Sullivan KE (2009) CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies\/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features. Pediatrics 123(5):e871\u2013e877","journal-title":"Pediatrics."},{"issue":"1","key":"826_CR95","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1016\/j.jaci.2019.09.020","volume":"145","author":"JD Bernstock","year":"2020","unstructured":"Bernstock JD, Totten AH, Elkahloun AG, Johnson KR, Hurst AC, Goldman F et al (2020) Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndrome. J Allergy Clin Immunol 145(1):358\u201367.e2","journal-title":"J Allergy Clin Immunol"},{"issue":"3","key":"826_CR96","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1002\/ajmg.a.36895","volume":"167","author":"E Tassano","year":"2015","unstructured":"Tassano E, Jagannathan V, Dr\u00f6gem\u00fcller C, Leoni M, Hyt\u00f6nen MK, Severino M, Gimelli S, Cuoco C, di Rocco M, Sanio K, Groves AK, Leeb T, Gimelli G (2015) Congenital aural atresia associated with agenesis of internal carotid artery in a girl with aFOXI3deletion. Am J Med Genet A 167(3):537\u2013544","journal-title":"Am J Med Genet A"},{"issue":"1","key":"826_CR97","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.ydbio.2015.09.022","volume":"409","author":"O Birol","year":"2016","unstructured":"Birol O, Ohyama T, Edlund RK, Drakou K, Georgiades P, Groves AK (2016) The mouse Foxi3 transcription factor is necessary for the development of posterior placodes. Dev Biol 409(1):139\u2013151","journal-title":"Dev Biol"},{"issue":"3","key":"826_CR98","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1002\/dvdy.20160","volume":"231","author":"T Ohyama","year":"2004","unstructured":"Ohyama T, Groves AK (2004) Expression of mouse Foxi class genes in early craniofacial development. Dev Dyn 231(3):640\u2013646","journal-title":"Dev Dyn"},{"issue":"8","key":"826_CR99","doi-asserted-by":"crossref","first-page":"e1008301","DOI":"10.1371\/journal.pgen.1008301","volume":"15","author":"E Hasten","year":"2019","unstructured":"Hasten E, Morrow BE (2019) Tbx1 and Foxi3 genetically interact in the pharyngeal pouch endoderm in a mouse model for 22q11.2 deletion syndrome. PLoS Genet 15(8):e1008301","journal-title":"PLoS Genet"},{"issue":"5895","key":"826_CR100","doi-asserted-by":"crossref","first-page":"1462","DOI":"10.1126\/science.1162525","volume":"321","author":"C Dr\u00f6gem\u00fcller","year":"2008","unstructured":"Dr\u00f6gem\u00fcller C, Karlsson EK, Hyt\u00f6nen MK, Perloski M, Dolf G, Sainio K et al (2008) A mutation in hairless dogs implicates FOXI3 in ectodermal development. Science 321(5895):1462","journal-title":"Science"},{"issue":"6","key":"826_CR101","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1002\/dvdy.23952","volume":"242","author":"V Shirokova","year":"2013","unstructured":"Shirokova V, Jussila M, Hyt\u00f6nen MK, Per\u00e4l\u00e4 N, Dr\u00f6gem\u00fcller C, Leeb T, Lohi H, Sainio K, Thesleff I, Mikkola ML (2013) Expression ofFoxi3is regulated by ectodysplasin in skin appendage placodes. Dev Dyn 242(6):593\u2013603","journal-title":"Dev Dyn"},{"key":"826_CR102","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1002\/ajmg.1320250614","volume":"2","author":"KK Sulik","year":"1986","unstructured":"Sulik KK, Johnston MC, Daft PA, Russell WE, Dehart DB (1986) Fetal alcohol syndrome and DiGeorge anomaly: critical ethanol exposure periods for craniofacial malformations as illustrated in an animal model. Am J Med Genet Suppl 2:97\u2013112","journal-title":"Am J Med Genet Suppl"},{"issue":"4","key":"826_CR103","doi-asserted-by":"crossref","first-page":"e97440","DOI":"10.1172\/jci.insight.97440","volume":"3","author":"H Yao","year":"2018","unstructured":"Yao H, Hill SF, Skidmore JM, Sperry ED, Swiderski DL, Sanchez GJ et al (2018) CHD7 represses the retinoic acid synthesis enzyme ALDH1A3 during inner ear development. JCI Insight 3(4):e97440","journal-title":"JCI Insight"},{"issue":"4","key":"826_CR104","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1002\/dvdy.20268","volume":"232","author":"C Roberts","year":"2005","unstructured":"Roberts C, Ivins SM, James CT, Scambler PJ (2005) Retinoic acid down-regulates Tbx1 expression in vivo and in vitro. Dev Dyn 232(4):928\u2013938","journal-title":"Dev Dyn"},{"issue":"6","key":"826_CR105","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1002\/(SICI)1096-9926(199812)58:6<263::AID-TERA8>3.0.CO;2-A","volume":"58","author":"GB Mulder","year":"1998","unstructured":"Mulder GB, Manley N, Maggio-Price L (1998) Retinoic acid-induced thymic abnormalities in the mouse are associated with altered pharyngeal morphology, thymocyte maturation defects, and altered expression of Hoxa3 and Pax1. Teratology 58(6):263\u2013275","journal-title":"Teratology."},{"issue":"2","key":"826_CR106","doi-asserted-by":"crossref","first-page":"524","DOI":"10.4049\/jimmunol.1800418","volume":"201","author":"K Wendland","year":"2018","unstructured":"Wendland K, Niss K, Kotarsky K, Wu NYH, White AJ, Jendholm J, Rivollier A, Izarzugaza JMG, Brunak S, Holl\u00e4nder GA, Anderson G, Sitnik KM, Agace WW (2018) Retinoic acid signaling in thymic epithelial cells regulates thymopoiesis. J Immunol 201(2):524\u2013532","journal-title":"J Immunol"},{"issue":"10","key":"826_CR107","doi-asserted-by":"crossref","first-page":"4539","DOI":"10.1182\/blood-2006-10-048652","volume":"109","author":"ML Markert","year":"2007","unstructured":"Markert ML, Devlin BH, Alexieff MJ, Li J, McCarthy EA, Gupton SE et al (2007) Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants. Blood 109(10):4539\u20134547","journal-title":"Blood."},{"issue":"4","key":"826_CR108","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1002\/ajmg.1320550427","volume":"55","author":"MC Digilio","year":"1995","unstructured":"Digilio MC, Marino B, Formigari R, Giannotti A (1995) Maternal diabetes causing DiGeorge anomaly and renal agenesis. Am J Med Genet 55(4):513\u2013514","journal-title":"Am J Med Genet"},{"issue":"4","key":"826_CR109","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.2337\/db15-1570","volume":"66","author":"LM Lee","year":"2017","unstructured":"Lee LM, Leung MB, Kwok RC, Leung YC, Wang CC, McCaffery PJ et al (2017) Perturbation of retinoid homeostasis increases malformation risk in embryos exposed to pregestational diabetes. Diabetes 66(4):1041\u20131051","journal-title":"Diabetes."},{"issue":"6501","key":"826_CR110","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1038\/372103a0","volume":"372","author":"M Nehls","year":"1994","unstructured":"Nehls M, Pfeifer D, Schorpp M, Hedrich H, Boehm T (1994) New member of the winged-helix protein family disrupted in mouse and rat nude mutations. Nature. 372(6501):103\u2013107","journal-title":"Nature."},{"issue":"2","key":"826_CR111","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1006\/dbio.1999.9221","volume":"208","author":"D Lee","year":"1999","unstructured":"Lee D, Prowse DM, Brissette JL (1999) Association between mouse nude gene expression and the initiation of epithelial terminal differentiation. Dev Biol 208(2):362\u2013374","journal-title":"Dev Biol"},{"issue":"11","key":"826_CR112","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1002348","volume":"7","author":"CS Nowell","year":"2011","unstructured":"Nowell CS, Bredenkamp N, Tet\u00e9lin S, Jin X, Tischner C, Vaidya H, Sheridan JM, Stenhouse FH, Heussen R, Smith AJH, Blackburn CC (2011) Foxn1 regulates lineage progression in cortical and medullary thymic epithelial cells but is dispensable for medullary sublineage divergence. PLoS Genet 7(11):e1002348","journal-title":"PLoS Genet"},{"issue":"3","key":"826_CR113","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1182\/blood-2008-05-156265","volume":"113","author":"L Chen","year":"2009","unstructured":"Chen L, Xiao S, Manley NR (2009) Foxn1 is required to maintain the postnatal thymic microenvironment in a dosage-sensitive manner. Blood 113(3):567\u2013574","journal-title":"Blood."},{"issue":"5263","key":"826_CR114","doi-asserted-by":"crossref","first-page":"886","DOI":"10.1126\/science.272.5263.886","volume":"272","author":"M Nehls","year":"1996","unstructured":"Nehls M, Kyewski B, Messerle M, Waldschutz R, Schuddekopf K, Smith AJ et al (1996) Two genetically separable steps in the differentiation of thymic epithelium. Science. 272(5263):886\u2013889","journal-title":"Science."},{"issue":"3","key":"826_CR115","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1017\/S0016672300010168","volume":"8","author":"SP Flanagan","year":"1966","unstructured":"Flanagan SP (1966) 'Nude', a new hairless gene with pleiotropic effects in the mouse. Genet Res 8(3):295\u2013309","journal-title":"Genet Res"},{"issue":"6727","key":"826_CR116","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1038\/18997","volume":"398","author":"J Frank","year":"1999","unstructured":"Frank J, Pignata C, Panteleyev AA, Prowse DM, Baden H, Weiner L, Gaetaniello L, Ahmad W, Pozzi N, Cserhalmi-Friedman PB, Aita VM, Uyttendaele H, Gordon D, Ott J, Brissette JL, Christiano AM (1999) Exposing the human nude phenotype. Nature 398(6727):473\u2013474","journal-title":"Nature."},{"issue":"2","key":"826_CR117","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1002\/(SICI)1096-8628(19961016)65:2<167::AID-AJMG17>3.0.CO;2-O","volume":"65","author":"C Pignata","year":"1996","unstructured":"Pignata C, Fiore M, Guzzetta V, Castaldo A, Sebastio G, Porta F, Guarino A (1996) Congenital Alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs. Am J Med Genet 65(2):167\u2013170","journal-title":"Am J Med Genet"},{"issue":"2","key":"826_CR118","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1182\/blood-2010-06-292490","volume":"117","author":"ML Markert","year":"2011","unstructured":"Markert ML, Marques JG, Neven B, Devlin BH, McCarthy EA, Chinn IK et al (2011) First use of thymus transplantation therapy for FOXN1 deficiency (nude\/SCID): a report of 2 cases. Blood 117(2):688\u2013696","journal-title":"Blood."},{"issue":"Pt 3","key":"826_CR119","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1046\/j.1529-8817.2004.00091.x","volume":"68","author":"M Adriani","year":"2004","unstructured":"Adriani M, Martinez-Mir A, Fusco F, Busiello R, Frank J, Telese S, Matrecano E, Ursini MV, Christiano AM, Pignata C (2004) Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population. Ann Hum Genet 68(Pt 3):265\u2013268","journal-title":"Ann Hum Genet"},{"issue":"1","key":"826_CR120","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.clim.2014.08.005","volume":"155","author":"J Chou","year":"2014","unstructured":"Chou J, Massaad MJ, Wakim RH, Bainter W, Dbaibo G, Geha RS (2014) A novel mutation in FOXN1 resulting in SCID: a case report and literature review. Clin Immunol 155(1):30\u201332","journal-title":"Clin Immunol"},{"issue":"10","key":"826_CR121","doi-asserted-by":"crossref","first-page":"2948","DOI":"10.1074\/jbc.RA119.010365","volume":"295","author":"JA Newman","year":"2020","unstructured":"Newman JA, Aitkenhead H, Gavard AE, Rota IA, Handel AE, Hollander GA, Gileadi O (2020) The crystal structure of human forkhead box N1 in complex with DNA reveals the structural basis for forkhead box family specificity. J Biol Chem 295(10):2948\u20132958","journal-title":"J Biol Chem"},{"issue":"1","key":"826_CR122","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1186\/s13023-016-0557-1","volume":"12","author":"IA Rota","year":"2017","unstructured":"Rota IA, Dhalla F (2017) FOXN1 deficient nude severe combined immunodeficiency. Orphanet J Rare Dis 12(1):6","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"826_CR123","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1016\/j.ajhg.2019.07.014","volume":"105","author":"M Bosticardo","year":"2019","unstructured":"Bosticardo M, Yamazaki Y, Cowan J, Giardino G, Corsino C, Scalia G, Prencipe R, Ruffner M, Hill DA, Sakovich I, Yemialyanava I, Tam JS, Padem N, Elder ME, Sleasman JW, Perez E, Niebur H, Seroogy CM, Sharapova S, Gebbia J, Kleiner GI, Peake J, Abbott JK, Gelfand EW, Crestani E, Biggs C, Butte MJ, Hartog N, Hayward A, Chen K, Heimall J, Seeborg F, Bartnikas LM, Cooper MA, Pignata C, Bhandoola A, Notarangelo LD (2019) Heterozygous FOXN1 variants cause low TRECs and severe T cell lymphopenia, revealing a crucial role of FOXN1 in supporting early thymopoiesis. Am J Hum Genet 105(3):549\u2013561","journal-title":"Am J Hum Genet"},{"issue":"11","key":"826_CR124","doi-asserted-by":"crossref","first-page":"4724","DOI":"10.1172\/JCI127565","volume":"129","author":"Q Du","year":"2019","unstructured":"Du Q, Huynh LK, Coskun F, Molina E, King MA, Raj P et al (2019) FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans. J Clin Invest 129(11):4724\u20134738","journal-title":"J Clin Invest"},{"issue":"4","key":"826_CR125","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1242\/dev.091785","volume":"141","author":"JA Blake","year":"2014","unstructured":"Blake JA, Ziman MR (2014) Pax genes: regulators of lineage specification and progenitor cell maintenance. Development. 141(4):737\u2013751","journal-title":"Development."},{"issue":"44","key":"826_CR126","doi-asserted-by":"crossref","first-page":"eaax1036","DOI":"10.1126\/sciimmunol.aax1036","volume":"5","author":"Y Yamazaki","year":"2020","unstructured":"Yamazaki Y, Urrutia R, Franco LM, Giliani S, Zhang K, Alazami AM et al (2020) PAX1 is essential for development and function of the human thymus. Sci Immunol 5(44):eaax1036","journal-title":"Sci Immunol"},{"issue":"6","key":"826_CR127","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1111\/cge.13085","volume":"92","author":"I Paganini","year":"2017","unstructured":"Paganini I, Sestini R, Capone GL, Putignano AL, Contini E, Giotti I, Gensini F, Marozza A, Barilaro A, Porfirio B, Papi L (2017) A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency. Clin Genet 92(6):664\u2013668","journal-title":"Clin Genet"},{"issue":"2","key":"826_CR128","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/j.ajhg.2017.01.013","volume":"100","author":"MM Oud","year":"2017","unstructured":"Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, Wanders RJA, Pals ST, Ocaka L, James C, M\u00fcller I, Lehmberg K, Strom T, Engels H, Williams HJ, Beales P, Roepman R, Dias P, Brunner HG, Cobben JM, Hall C, Hartley T, le Quesne Stabej P, Mendoza-Londono R, Davies EG, de Sousa SB, Lessel D, Arts HH, Kuijpers TW (2017) Mutations in EXTL3 cause neuro-immuno-skeletal dysplasia syndrome. Am J Hum Genet 100(2):281\u2013296","journal-title":"Am J Hum Genet"},{"issue":"3","key":"826_CR129","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1084\/jem.20161525","volume":"214","author":"S Volpi","year":"2017","unstructured":"Volpi S, Yamazaki Y, Brauer PM, van Rooijen E, Hayashida A, Slavotinek A, Sun Kuehn H, di Rocco M, Rivolta C, Bortolomai I, du L, Felgentreff K, Ott de Bruin L, Hayashida K, Freedman G, Marcovecchio GE, Capuder K, Rath P, Luche N, Hagedorn EJ, Buoncompagni A, Royer-Bertrand B, Giliani S, Poliani PL, Imberti L, Dobbs K, Poulain FE, Martini A, Manis J, Linhardt RJ, Bosticardo M, Rosenzweig SD, Lee H, Puck JM, Z\u00fa\u00f1iga-Pfl\u00fccker JC, Zon L, Park PW, Superti-Furga A, Notarangelo LD (2017) EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. J Exp Med 214(3):623\u2013637","journal-title":"J Exp Med"},{"issue":"8","key":"826_CR130","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1038\/jhg.2017.38","volume":"62","author":"L Guo","year":"2017","unstructured":"Guo L, Elcioglu NH, Mizumoto S, Wang Z, Noyan B, Albayrak HM, Yamada S, Matsumoto N, Miyake N, Nishimura G, Ikegawa S (2017) Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia. J Hum Genet 62(8):797\u2013801","journal-title":"J Hum Genet"},{"issue":"8","key":"826_CR131","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1038\/jhg.2017.47","volume":"62","author":"LD Notarangelo","year":"2017","unstructured":"Notarangelo LD (2017) Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia. J Hum Genet 62(8):737\u2013738","journal-title":"J Hum Genet"},{"issue":"5","key":"826_CR132","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1136\/jmedgenet-2012-101483","volume":"50","author":"ME Samuels","year":"2013","unstructured":"Samuels ME, Majewski J, Alirezaie N, Fernandez I, Casals F, Patey N, Decaluwe H, Gosselin I, Haddad E, Hodgkinson A, Idaghdour Y, Marchand V, Michaud JL, Rodrigue MA, Desjardins S, Dubois S, le Deist F, Awadalla P, Raymond V, Maranda B (2013) Exome sequencing identifies mutations in the geneTTC7Ain French-Canadian cases with hereditary multiple intestinal atresia. J Med Genet 50(5):324\u2013329","journal-title":"J Med Genet"},{"issue":"1","key":"826_CR133","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1172\/JCI71471","volume":"124","author":"AE Bigorgne","year":"2013","unstructured":"Bigorgne AE, Farin HF, Lemoine R, Mahlaoui N, Lambert N, Gil M et al (2013) TTC7A mutations disrupt intestinal epithelial apicobasal polarity. J Clin Investig 124(1):328\u2013337","journal-title":"J Clin Investig"},{"issue":"3","key":"826_CR134","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1016\/j.jaci.2013.06.013","volume":"132","author":"R Chen","year":"2013","unstructured":"Chen R, Giliani S, Lanzi G, Mias GI, Lonardi S, Dobbs K et al (2013) Whole-exome sequencing identifies tetratricopeptide repeat domain 7A ( TTC7A ) mutations for combined immunodeficiency with intestinal atresias. J Allergy Clin Immunol 132(3):656\u201364.e17","journal-title":"J Allergy Clin Immunol"},{"issue":"6","key":"826_CR135","doi-asserted-by":"crossref","first-page":"1354","DOI":"10.1016\/j.jaci.2014.07.019","volume":"134","author":"R Lemoine","year":"2014","unstructured":"Lemoine R, Pachlopnik-Schmid J, Farin HF, Bigorgne A, Debr\u00e9 M, Sepulveda F et al (2014) Immune deficiency\u2013related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency. J Allergy Clin Immunol 134(6):1354\u201364.e6","journal-title":"J Allergy Clin Immunol"},{"issue":"3","key":"826_CR136","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1172\/JCI200523087","volume":"115","author":"P Cavadini","year":"2005","unstructured":"Cavadini P, Vermi W, Facchetti F, Fontana S, Nagafuchi S, Mazzolari E, Sediva A, Marrella V, Villa A, Fischer A, Notarangelo LD, Badolato R (2005) AIRE deficiency in thymus of 2 patients with Omenn syndrome. J Clin Invest 115(3):728\u2013732","journal-title":"J Clin Invest"},{"issue":"2","key":"826_CR137","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1016\/j.jaci.2012.11.002","volume":"131","author":"PL Poliani","year":"2013","unstructured":"Poliani PL, Fontana E, Roifman CM, Notarangelo LD (2013) zeta Chain-associated protein of 70 kDa (ZAP70) deficiency in human subjects is associated with abnormalities of thymic stromal cells: Implications for T-cell tolerance. J Allergy Clin Immunol 131(2):597\u2013600 e1-2","journal-title":"J Allergy Clin Immunol"},{"issue":"7","key":"826_CR138","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1002\/eji.1830210711","volume":"21","author":"EW Shores","year":"1991","unstructured":"Shores EW, Van Ewijk W, Singer A (1991) Disorganization and restoration of thymic medullary epithelial cells in T cell receptor-negative scid mice: evidence that receptor-bearing lymphocytes influence maturation of the thymic microenvironment. Eur J Immunol 21(7):1657\u20131661","journal-title":"Eur J Immunol"},{"issue":"1","key":"826_CR139","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1111\/j.1749-6632.2011.06308.x","volume":"1246","author":"K Kisand","year":"2011","unstructured":"Kisand K, Peterson P (2011) Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: known and novel aspects of the syndrome. Ann N Y Acad Sci 1246(1):77\u201391","journal-title":"Ann N Y Acad Sci"},{"issue":"4","key":"826_CR140","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1038\/ng1297-393","volume":"17","author":"K Nagamine","year":"1997","unstructured":"Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, Krohn KJE, Lalioti MD, Mullis PE, Antonarakis SE, Kawasaki K, Asakawa S, Ito F, Shimizu N (1997) Positional cloning of the APECED gene. Nat Genet 17(4):393\u2013398","journal-title":"Nat Genet"},{"issue":"2","key":"826_CR141","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1084\/jem.20091983","volume":"207","author":"A Puel","year":"2010","unstructured":"Puel A, Doffinger R, Natividad A, Chrabieh M, Barcenas-Morales G, Picard C et al (2010) Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med 207(2):291\u2013297","journal-title":"J Exp Med"},{"issue":"10","key":"826_CR142","doi-asserted-by":"crossref","first-page":"4747","DOI":"10.1210\/jcem.86.10.7884","volume":"86","author":"F Cetani","year":"2001","unstructured":"Cetani F, Barbesino G, Borsari S, Pardi E, Cianferotti L, Pinchera A, Marcocci C (2001) A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis. J Clin Endocrinol Metab 86(10):4747\u20134752","journal-title":"J Clin Endocrinol Metab"},{"issue":"6","key":"826_CR143","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1016\/j.immuni.2015.04.021","volume":"42","author":"BE Oftedal","year":"2015","unstructured":"Oftedal BE, Hellesen A, Erichsen MM, Bratland E, Vardi A, Perheentupa J, Kemp EH, Fiskerstrand T, Viken MK, Weetman AP, Fleishman SJ, Banka S, Newman WG, Sewell WAC, Sozaeva LS, Zayats T, Haugarvoll K, Orlova EM, Haavik J, Johansson S, Knappskog PM, L\u00f8v\u00e5s K, Wolff ASB, Abramson J, Husebye ES (2015) Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases. Immunity. 42(6):1185\u20131196","journal-title":"Immunity."},{"key":"826_CR144","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1016\/j.jaut.2017.10.010","volume":"88","author":"JK Abbott","year":"2018","unstructured":"Abbott JK, Huoh YS, Reynolds PR, Yu L, Rewers M, Reddy M, Anderson MS, Hur S, Gelfand EW (2018) Dominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator (AIRE). J Autoimmun 88:114\u2013120","journal-title":"J Autoimmun"},{"issue":"1","key":"826_CR145","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1111\/imr.12729","volume":"287","author":"JM Puck","year":"2019","unstructured":"Puck JM (2019) Newborn screening for severe combined immunodeficiency and T-cell lymphopenia. Immunol Rev 287(1):241\u2013252","journal-title":"Immunol Rev"},{"issue":"12","key":"826_CR146","doi-asserted-by":"crossref","first-page":"2606","DOI":"10.1182\/bloodadvances.2020001736","volume":"4","author":"P Bifsha","year":"2020","unstructured":"Bifsha P, Leiding JW, Pai SY, Colamartino ABL, Hartog N, Church JA, Oshrine BR, Puck JM, Markert ML, Haddad E (2020) Diagnostic assay to assist clinical decisions for unclassified severe combined immune deficiency. Blood Adv 4(12):2606\u20132610","journal-title":"Blood Adv"},{"issue":"12","key":"826_CR147","doi-asserted-by":"crossref","first-page":"2611","DOI":"10.1182\/bloodadvances.2020001730","volume":"4","author":"M Bosticardo","year":"2020","unstructured":"Bosticardo M, Pala F, Calzoni E, Delmonte OM, Dobbs K, Gardner CL, Sacchetti N\u2019, Kawai T, Garabedian EK, Draper D, Bergerson JRE, DeRavin SS, Freeman AF, G\u00fcng\u00f6r T, Hartog N, Holland SM, Kohn DB, Malech HL, Markert ML, Weinacht KG, Villa A, Seet CS, Montel-Hagen A, Crooks GM, Notarangelo LD (2020) Artificial thymic organoids represent a reliable tool to study T-cell differentiation in patients with severe T-cell lymphopenia. Blood Adv 4(12):2611\u20132616","journal-title":"Blood Adv"},{"issue":"2","key":"826_CR148","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, Digilio MC, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J, International 22q11.2 Deletion Syndrome Consortium (2011) Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr 159(2):332\u2013339 e1","journal-title":"J Pediatr"},{"issue":"8","key":"826_CR149","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1038\/gim.2014.175","volume":"17","author":"WL Fung","year":"2015","unstructured":"Fung WL, Butcher NJ, Costain G, Andrade DM, Boot E, Chow EW et al (2015) Practical guidelines for managing adults with 22q11.2 deletion syndrome. Genet Med 17(8):599\u2013609","journal-title":"Genet Med"},{"issue":"3","key":"826_CR150","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/j.clim.2007.11.009","volume":"126","author":"IK Chinn","year":"2008","unstructured":"Chinn IK, Devlin BH, Li YJ, Markert ML (2008) Long-term tolerance to allogeneic thymus transplants in complete DiGeorge anomaly. Clin Immunol 126(3):277\u2013281","journal-title":"Clin Immunol"},{"issue":"5","key":"826_CR151","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1111\/ajt.15668","volume":"20","author":"AY Kreins","year":"2020","unstructured":"Kreins AY, Junghanns F, Mifsud W, Somana K, Sebire N, Rampling D, Worth A, Sirin M, Schuetz C, Schulz A, Hoenig M, Thrasher AJ, Davies EG (2020) Correction of both immunodeficiency and hypoparathyroidism by thymus transplantation in complete DiGeorge syndrome. Am J Transplant 20(5):1447\u20131450","journal-title":"Am J Transplant"},{"issue":"3","key":"826_CR152","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1016\/j.jpeds.2013.03.070","volume":"163","author":"W Ip","year":"2013","unstructured":"Ip W, Zhan H, Gilmour KC, Davies EG, Qasim W (2013) 22q11.2 deletion syndrome with life-threatening adenovirus infection. J Pediatr 163(3):908\u2013910","journal-title":"J Pediatr"},{"issue":"13","key":"826_CR153","doi-asserted-by":"crossref","first-page":"2229","DOI":"10.1182\/blood-2010-03-275966","volume":"116","author":"A Janda","year":"2010","unstructured":"Janda A, Sedlacek P, Honig M, Friedrich W, Champagne M, Matsumoto T et al (2010) Multicenter survey on the outcome of transplantation of hematopoietic cells in patients with the complete form of DiGeorge anomaly. Blood. 116(13):2229\u20132236","journal-title":"Blood."},{"issue":"4","key":"826_CR154","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1016\/j.jaci.2007.08.048","volume":"120","author":"MH Land","year":"2007","unstructured":"Land MH, Garcia-Lloret MI, Borzy MS, Rao PN, Aziz N, McGhee SA et al (2007) Long-term results of bone marrow transplantation in complete DiGeorge syndrome. J Allergy Clin Immunol 120(4):908\u2013915","journal-title":"J Allergy Clin Immunol"},{"issue":"2","key":"826_CR155","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1007\/s12015-020-09955-y","volume":"16","author":"VP Shichkin","year":"2020","unstructured":"Shichkin VP, Antica M (2020) Thymus Regeneration and Future Challenges. Stem Cell Rev Rep 16(2):239\u2013250","journal-title":"Stem Cell Rev Rep"}],"container-title":["Seminars in Immunopathology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00281-020-00826-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00281-020-00826-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00281-020-00826-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T05:17:01Z","timestamp":1669871821000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00281-020-00826-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,30]]},"references-count":155,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,2]]}},"alternative-id":["826"],"URL":"https:\/\/doi.org\/10.1007\/s00281-020-00826-9","relation":{},"ISSN":["1863-2297","1863-2300"],"issn-type":[{"value":"1863-2297","type":"print"},{"value":"1863-2300","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11,30]]},"assertion":[{"value":"30 July 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 November 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 November 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that they have no conflict of interest","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}