{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T17:04:51Z","timestamp":1761843891772},"reference-count":63,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2007,12]]},"DOI":"10.1097\/aci.0b013e3282f1a27a","type":"journal-article","created":{"date-parts":[[2009,3,5]],"date-time":"2009-03-05T00:45:26Z","timestamp":1236213926000},"page":"515-521","source":"Crossref","is-referenced-by-count":26,"title":["Regulatory T cells in primary immunodeficiency diseases"],"prefix":"10.1097","volume":"7","author":[{"given":"Troy R","family":"Torgerson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans D","family":"Ochs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"R1-9-20210203","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1097\/00002281-200307000-00008","article-title":"Autoimmune lymphoproliferative syndrome","volume":"15","author":"Sneller","year":"2003","journal-title":"Curr Opin Rheumatol"},{"key":"R2-9-20210203","doi-asserted-by":"crossref","first-page":"2568","DOI":"10.1210\/jcem.87.6.8564","article-title":"AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy phenotype","volume":"87","author":"Halonen","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"R3-9-20210203","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1097\/00002281-200307000-00010","article-title":"Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis","volume":"15","author":"Gambineri","year":"2003","journal-title":"Curr Opin Rheumatol"},{"key":"R4-9-20210203","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/S0022-3476(82)80573-8","article-title":"An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy","volume":"100","author":"Powell","year":"1982","journal-title":"J Pediatr"},{"key":"R5-9-20210203","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1073\/pnas.45.4.554","article-title":"Exceptional inheritance of a sex-linked gene in the mouse explained on the basis that the X\/O sex-chromosome constitution is female","volume":"45","author":"Russell","year":"1959","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R6-9-20210203","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1067\/mpd.2001.111502","article-title":"Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: further evidence for an X-linked lethal syndrome","volume":"138","author":"Levy-Lahad","year":"2001","journal-title":"J Pediatr"},{"key":"R7-9-20210203","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1136\/jmg.39.8.537","article-title":"Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome","volume":"39","author":"Wildin","year":"2002","journal-title":"J Med Genet"},{"key":"R8-9-20210203","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1046\/j.1365-2249.1998.00523.x","article-title":"A 75-kD autoantigen recognized by sera from patients with X-linked autoimmune enteropathy associated with nephropathy","volume":"111","author":"Kobayashi","year":"1998","journal-title":"Clin Exp Immunol"},{"key":"R9-9-20210203","doi-asserted-by":"crossref","first-page":"6659","DOI":"10.1073\/pnas.0509484103","article-title":"Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development","volume":"103","author":"Gavin","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R10-9-20210203","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1093\/intimm\/dxm014","article-title":"Activation-induced FOXP3 in human T effector cells does not suppress proliferation or cytokine production","volume":"19","author":"Allan","year":"2007","journal-title":"Int Immunol"},{"key":"R11-9-20210203","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.clim.2006.10.014","article-title":"Transient regulatory T-cells: a state attained by all activated human T-cells","volume":"123","author":"Pillai","year":"2007","journal-title":"Clin Immunol"},{"key":"R12-9-20210203","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1002\/eji.200636435","article-title":"Transient expression of FOXP3 in human activated nonregulatory CD4+ T cells","volume":"37","author":"Wang","year":"2007","journal-title":"Eur J Immunol"},{"key":"R13-9-20210203","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1006\/dbio.2002.0780","article-title":"Forkhead transcription factors: key players in development and metabolism","volume":"250","author":"Carlsson","year":"2002","journal-title":"Dev Biol"},{"key":"R14-9-20210203","doi-asserted-by":"crossref","first-page":"37672","DOI":"10.1074\/jbc.M104521200","article-title":"Scurfin (FOXP3) acts as a repressor of transcription and regulates T cell activation","volume":"276","author":"Schubert","year":"2001","journal-title":"J Biol Chem"},{"key":"R15-9-20210203","doi-asserted-by":"crossref","first-page":"5138","DOI":"10.1073\/pnas.0501675102","article-title":"Foxp3 interacts with nuclear factor of activated T cells and NF-kappa B to repress cytokine gene expression and effector functions of T helper cells","volume":"102","author":"Bettelli","year":"2005","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R16-9-20210203","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/j.cell.2006.05.042","article-title":"FOXP3 controls regulatory T cell function through cooperation with NFAT","volume":"126","author":"Wu","year":"2006","journal-title":"Cell"},{"key":"R17-9-20210203","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1038\/nature05563","article-title":"Genome-wide analysis of Foxp3 target genes in developing and mature regulatory T cells","volume":"445","author":"Zheng","year":"2007","journal-title":"Nature"},{"key":"R18-9-20210203","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1038\/nature05478","article-title":"Foxp3 occupancy and regulation of key target genes during T-cell stimulation","volume":"445","author":"Marson","year":"2007","journal-title":"Nature"},{"key":"R19-9-20210203","doi-asserted-by":"crossref","first-page":"3133","DOI":"10.4049\/jimmunol.177.5.3133","article-title":"Analysis of FOXP3 reveals multiple domains required for its function as a transcriptional repressor","volume":"177","author":"Lopes","year":"2006","journal-title":"J Immunol"},{"key":"R20-9-20210203","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1038\/nature05673","article-title":"Foxp3 controls regulatory T-cell function by interacting with AML1\/Runx1","volume":"446","author":"Ono","year":"2007","journal-title":"Nature"},{"key":"R21-9-20210203","first-page":"281","article-title":"Transplantation of T cell-mediated, lymphoreticular disease from the scurfy (sf) mouse","volume":"145","author":"Godfrey","year":"1994","journal-title":"Am J Pathol"},{"key":"R22-9-20210203","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1038\/ni904","article-title":"Foxp3 programs the development and function of CD4+CD25+ regulatory T cells","volume":"4","author":"Fontenot","year":"2003","journal-title":"Nat Immunol"},{"key":"R23-9-20210203","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1126\/science.1079490","article-title":"Control of regulatory T cell development by the transcription factor Foxp3","volume":"299","author":"Hori","year":"2003","journal-title":"Science"},{"key":"R24-9-20210203","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/ni909","article-title":"An essential role for Scurfin in CD4+CD25+ T regulatory cells","volume":"4","author":"Khattri","year":"2003","journal-title":"Nat Immunol"},{"key":"R25-9-20210203","doi-asserted-by":"crossref","first-page":"1643","DOI":"10.1093\/intimm\/dxh165","article-title":"Crucial role of FOXP3 in the development and function of human CD25+CD4+ regulatory T cells","volume":"16","author":"Yagi","year":"2004","journal-title":"Int Immunol"},{"key":"R26-9-20210203","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1038\/ni1445","article-title":"Regulatory T cell development in the absence of functional Foxp3","volume":"8","author":"Lin","year":"2007","journal-title":"Nat Immunol"},{"key":"R27-9-20210203","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1038\/nature05543","article-title":"Foxp3-dependent programme of regulatory T-cell differentiation","volume":"445","author":"Gavin","year":"2007","journal-title":"Nature"},{"key":"R28-9-20210203","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1002\/(SICI)1096-8628(20000228)90:5<390::AID-AJMG9>3.0.CO;2-M","article-title":"Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome","volume":"90","author":"Ferguson","year":"2000","journal-title":"Am J Med Genet"},{"key":"R29-9-20210203","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1038\/sj.bmt.1705628","article-title":"Rapamycin, not cyclosporine, permits thymic generation and peripheral preservation of CD4+CD25+FoxP3+ T cells","volume":"39","author":"Coenen","year":"2007","journal-title":"Bone Marrow Transplant"},{"key":"R30-9-20210203","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1016\/j.jpeds.2005.04.017","article-title":"Successful use of the new immune-suppressor sirolimus in IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome)","volume":"147","author":"Bindl","year":"2005","journal-title":"J Pediatr"},{"key":"R31-9-20210203","doi-asserted-by":"crossref","first-page":"8338","DOI":"10.4049\/jimmunol.177.12.8338","article-title":"Rapamycin promotes expansion of functional CD4+CD25+FOXP3+ regulatory T cells of both healthy subjects and type 1 diabetic patients","volume":"177","author":"Battaglia","year":"2006","journal-title":"J Immunol"},{"key":"R32-9-20210203","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1038\/sj.bmt.1704954","article-title":"A new case of IPEX receiving bone marrow transplantation","volume":"35","author":"Mazzolari","year":"2005","journal-title":"Bone Marrow Transplant"},{"key":"R33-9-20210203","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1038\/sj.bmt.1705542","article-title":"Submyeloablative cord blood transplantation corrects clinical defects seen in IPEX syndrome","volume":"39","author":"Lucas","year":"2007","journal-title":"Bone Marrow Transplant"},{"key":"R34-9-20210203","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1182\/blood-2006-05-025072","article-title":"Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning","volume":"109","author":"Rao","year":"2007","journal-title":"Blood"},{"key":"R35-9-20210203","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/1074-7613(95)90180-9","article-title":"Interleukin-2 receptor alpha chain regulates the size and content of the peripheral lymphoid compartment","volume":"3","author":"Willerford","year":"1995","journal-title":"Immunity"},{"key":"R36-9-20210203","doi-asserted-by":"crossref","first-page":"3168","DOI":"10.1073\/pnas.94.7.3168","article-title":"Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor","volume":"94","author":"Sharfe","year":"1997","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R37-9-20210203","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1016\/j.jaci.2006.10.007","article-title":"CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes","volume":"119","author":"Caudy","year":"2007","journal-title":"J Allergy Clin Immunol"},{"key":"R38-9-20210203","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1203\/00006450-200007000-00004","article-title":"Human IL-2 receptor alpha chain deficiency","volume":"48","author":"Roifman","year":"2000","journal-title":"Pediatr Res"},{"key":"R39-9-20210203","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.jaut.2006.04.005","article-title":"IL-2 receptor alpha deficiency and features of primary biliary cirrhosis","volume":"27","author":"Aoki","year":"2006","journal-title":"J Autoimmun"},{"key":"R40-9-20210203","doi-asserted-by":"crossref","first-page":"1681","DOI":"10.1002\/eji.200526189","article-title":"Analysis of FOXP3 protein expression in human CD4+CD25+ regulatory T cells at the single-cell level","volume":"35","author":"Roncador","year":"2005","journal-title":"Eur J Immunol"},{"key":"R41-9-20210203","doi-asserted-by":"crossref","first-page":"1152","DOI":"10.1038\/ni1264","article-title":"Development and function of agonist-induced CD25+Foxp3+ regulatory T cells in the absence of interleukin 2 signaling","volume":"6","author":"D'Cruz","year":"2005","journal-title":"Nat Immunol"},{"key":"R42-9-20210203","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1038\/ni1263","article-title":"A function for interleukin 2 in Foxp3-expressing regulatory T cells","volume":"6","author":"Fontenot","year":"2005","journal-title":"Nat Immunol"},{"key":"R43-9-20210203","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/j.cytogfr.2006.07.003","article-title":"Both integrated and differential regulation of components of the IL-2\/IL-2 receptor system","volume":"17","author":"Kim","year":"2006","journal-title":"Cytokine Growth Factor Rev"},{"key":"R44-9-20210203","doi-asserted-by":"crossref","first-page":"e1584","DOI":"10.1542\/peds.2005-2882","article-title":"Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation","volume":"118","author":"Bernasconi","year":"2006","journal-title":"Pediatrics"},{"key":"R45-9-20210203","doi-asserted-by":"crossref","first-page":"4260","DOI":"10.1210\/jc.2005-0515","article-title":"Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b","volume":"90","author":"Hwa","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"key":"R46-9-20210203","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1056\/NEJMoa022926","article-title":"Growth hormone insensitivity associated with a STAT5b mutation","volume":"349","author":"Kofoed","year":"2003","journal-title":"N Engl J Med"},{"key":"R47-9-20210203","doi-asserted-by":"crossref","first-page":"2770","DOI":"10.4049\/jimmunol.177.5.2770","article-title":"Cutting edge: decreased accumulation and regulatory function of CD4+ CD25high T cells in human STAT5b deficiency","volume":"177","author":"Cohen","year":"2006","journal-title":"J Immunol"},{"key":"R48-9-20210203","doi-asserted-by":"crossref","first-page":"280","DOI":"10.4049\/jimmunol.178.1.280","article-title":"IL-2 receptor beta-dependent STAT5 activation is required for the development of Foxp3+ regulatory T cells","volume":"178","author":"Burchill","year":"2007","journal-title":"J Immunol"},{"key":"R49-9-20210203","doi-asserted-by":"crossref","first-page":"4368","DOI":"10.1182\/blood-2006-11-055756","article-title":"Nonredundant roles for Stat5a\/b in directly regulating Foxp3","volume":"109","author":"Yao","year":"2007","journal-title":"Blood"},{"key":"R50-9-20210203","doi-asserted-by":"crossref","first-page":"3435","DOI":"10.4049\/jimmunol.171.7.3435","article-title":"Essential role for STAT5 signaling in CD25+CD4+ regulatory T cell homeostasis and the maintenance of self-tolerance","volume":"171","author":"Antov","year":"2003","journal-title":"J Immunol"},{"key":"R51-9-20210203","doi-asserted-by":"crossref","first-page":"2843","DOI":"10.1210\/jc.2005-2611","article-title":"Autoimmune polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy","volume":"91","author":"Perheentupa","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"key":"R52-9-20210203","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1038\/ni906","article-title":"Aire regulates negative selection of organ-specific T cells","volume":"4","author":"Liston","year":"2003","journal-title":"Nat Immunol"},{"key":"R53-9-20210203","doi-asserted-by":"crossref","first-page":"1395","DOI":"10.1126\/science.1075958","article-title":"Projection of an immunological self shadow within the thymus by the aire protein","volume":"298","author":"Anderson","year":"2002","journal-title":"Science"},{"key":"R54-9-20210203","doi-asserted-by":"crossref","first-page":"1862","DOI":"10.4049\/jimmunol.174.4.1862","article-title":"Development of autoimmunity against transcriptionally unrepressed target antigen in the thymus of Aire-deficient mice","volume":"174","author":"Kuroda","year":"2005","journal-title":"J Immunol"},{"key":"R55-9-20210203","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/j.immuni.2005.07.005","article-title":"The cellular mechanism of Aire control of T cell tolerance","volume":"23","author":"Anderson","year":"2005","journal-title":"Immunity"},{"key":"R56-9-20210203","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1038\/ni1444","article-title":"Selection of Foxp3+ regulatory T cells specific for self antigen expressed and presented by Aire+ medullary thymic epithelial cells","volume":"8","author":"Aschenbrenner","year":"2007","journal-title":"Nat Immunol"},{"key":"R57-9-20210203","doi-asserted-by":"crossref","first-page":"1208","DOI":"10.4049\/jimmunol.178.2.1208","article-title":"A defect of regulatory T cells in patients with autoimmune polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy","volume":"178","author":"Kekalainen","year":"2007","journal-title":"J Immunol"},{"key":"R58-9-20210203","doi-asserted-by":"crossref","first-page":"1158","DOI":"10.1016\/j.jaci.2005.08.036","article-title":"CD4+CD25+ T-regulatory cells are decreased in patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy","volume":"116","author":"Ryan","year":"2005","journal-title":"J Allergy Clin Immunol"},{"issue":"6","key":"R60-9-20210203","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1016\/S0022-3476(05)82002-5","article-title":"A multiinstitutional survey of the Wiskott\u2013Aldrich syndrome","volume":"125","author":"Sullivan","year":"1994","journal-title":"J Pediatr"},{"issue":"5","key":"R61-9-20210203","doi-asserted-by":"crossref","first-page":"e622","DOI":"10.1542\/peds.111.5.e622","article-title":"Autoimmunity in Wiskott\u2013Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients","volume":"111","author":"Dupuis-Girod","year":"2003","journal-title":"Pediatrics"},{"key":"R62-9-20210203","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1084\/jem.20061338","article-title":"The Wiskott\u2013Aldrich syndrome protein is required for the function of CD4+CD25+Foxp3+ regulatory T cells","volume":"204","author":"Maillard","year":"2007","journal-title":"J Exp Med"},{"key":"R63-9-20210203","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1172\/JCI29539","article-title":"Wiskott\u2013Aldrich syndrome protein is required for regulatory T cell homeostasis","volume":"117","author":"Humblet-Baron","year":"2007","journal-title":"J Clin Invest"},{"key":"R64-9-20210203","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1084\/jem.20061334","article-title":"WASP regulates suppressor activity of human and murine CD4+CD25+FOXP3+ natural regulatory T cells","volume":"204","author":"Marangoni","year":"2007","journal-title":"J Exp Med"}],"container-title":["Current Opinion in Allergy &amp; Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/ACI.0b013e3282f1a27a","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,10]],"date-time":"2021-11-10T16:46:34Z","timestamp":1636562794000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00130832-200712000-00009"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,12]]},"references-count":63,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2007]]}},"URL":"https:\/\/doi.org\/10.1097\/aci.0b013e3282f1a27a","relation":{},"ISSN":["1528-4050"],"issn-type":[{"value":"1528-4050","type":"print"}],"subject":[],"published":{"date-parts":[[2007,12]]}}}