{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T20:40:45Z","timestamp":1790887245105,"version":"4.1.0"},"reference-count":25,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2016,7,1]],"date-time":"2016-07-01T00:00:00Z","timestamp":1467331200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"European Commission EURO-CMC, the Helmholtz Center DZIF","award":["8000805-3"],"award-info":[{"award-number":["8000805-3"]}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["ME1648\/7-1"],"award-info":[{"award-number":["ME1648\/7-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2016,7]]},"DOI":"10.1016\/j.gene.2016.04.006","type":"journal-article","created":{"date-parts":[[2016,4,6]],"date-time":"2016-04-06T05:22:10Z","timestamp":1459920130000},"page":"234-238","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":34,"title":["Common variable immunodeficiency, impaired neurological development and reduced numbers of T regulatory cells in a 10-year-old boy with a STAT1 gain-of-function mutation"],"prefix":"10.1016","volume":"586","author":[{"given":"Robin","family":"Kobbe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Kolster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastian","family":"Fuchs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulf","family":"Schulze-Sturm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jutta","family":"Jenderny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lothar","family":"Kochhan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Staab","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Tolosa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bodo","family":"Grimbacher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Meyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2016.04.006_bb0005","doi-asserted-by":"crossref","first-page":"1273","DOI":"10.1007\/s10875-013-9947-5","article-title":"A 1-year-old girl with a gain-of-function STAT1 mutation treated with hematopoietic stem cell transplantation","volume":"33","author":"Aldave","year":"2013","journal-title":"J. Clin. Immunol."},{"key":"10.1016\/j.gene.2016.04.006_bb0010","first-page":"162","article-title":"Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency","volume":"5","author":"Al-Herz","year":"2014","journal-title":"Front. Immunol."},{"key":"10.1016\/j.gene.2016.04.006_bb0015","doi-asserted-by":"crossref","first-page":"30","DOI":"10.4049\/jimmunol.0903412","article-title":"Cutting edge: the Th1 response inhibits the generation of peripheral regulatory T cells","volume":"184","author":"Caretto","year":"2010","journal-title":"J. Immunol."},{"key":"10.1016\/j.gene.2016.04.006_bb0025","doi-asserted-by":"crossref","first-page":"1241","DOI":"10.1002\/eji.200838913","article-title":"IFN-gamma-STAT1 signal regulates the differentiation of inducible Treg: potential role for ROS-mediated apoptosis","volume":"39","author":"Chang","year":"2009","journal-title":"Eur. J. Immunol."},{"key":"10.1016\/j.gene.2016.04.006_bb0030","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1007\/s10875-015-0214-9","article-title":"The extended clinical phenotype of 26 patients with chronic mucocutaneous candidiasis due to gain-of-function mutations in STAT1","volume":"36","author":"Depner","year":"2016","journal-title":"J. Clin. Immunol."},{"key":"10.1016\/j.gene.2016.04.006_bb0035","doi-asserted-by":"crossref","first-page":"2512","DOI":"10.1002\/eji.200838411","article-title":"Exogenous IFN-\u03b3 ex vivo shapes the alloreactive T-cell repertoire by inhibition of Th17 responses and generation of functional Foxp3+ regulatory T cells","volume":"38","author":"Feng","year":"2008","journal-title":"Eur. J. Immunol."},{"key":"10.1016\/j.gene.2016.04.006_bb0040","doi-asserted-by":"crossref","first-page":"3336","DOI":"10.4049\/jimmunol.1001455","article-title":"Stat3 phosphorylation mediates resistance of primary human T cells to regulatory T cell suppression","volume":"186","author":"Goodman","year":"2011","journal-title":"J. Immunol."},{"key":"10.1016\/j.gene.2016.04.006_bb0045","doi-asserted-by":"crossref","first-page":"17515","DOI":"10.1074\/jbc.M113.545871","article-title":"Caerulomycin A enhances transforming growth factor-\u03b2 (TGF-\u03b2)-Smad3 protein signaling by suppressing interferon-\u0263 (IFN-\u0263)-signal transducer and activator of transcription 1 (STAT1) protein signaling to expand regulatory T cells (Tregs)","volume":"289","author":"Gurram","year":"2014","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.gene.2016.04.006_bb0050","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.1007\/s10875-012-9744-6","article-title":"Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism","volume":"32","author":"Hori","year":"2012","journal-title":"J. Clin. Immunol."},{"key":"10.1016\/j.gene.2016.04.006_bb0055","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1084\/jem.20091669","article-title":"Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines","volume":"207","author":"Kisand","year":"2010","journal-title":"J. Exp. Med."},{"key":"10.1016\/j.gene.2016.04.006_bb0060","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1016\/j.jaci.2014.02.037","article-title":"Gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation-related primary immunodeficiency is associated with disseminated mucormycosis","volume":"134","author":"Kumar","year":"2014","journal-title":"J. Allergy Clin. Immunol."},{"key":"10.1016\/j.gene.2016.04.006_bb0065","doi-asserted-by":"crossref","first-page":"1635","DOI":"10.1084\/jem.20110958","article-title":"Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis","volume":"208","author":"Liu","year":"2011","journal-title":"J. Exp. Med."},{"key":"10.1016\/j.gene.2016.04.006_bb0070","doi-asserted-by":"crossref","first-page":"2554","DOI":"10.1172\/JCI43706","article-title":"Absence of Stat1 in donor CD4\u207a T cells promotes the expansion of Tregs and reduces graft-versus-host disease in mice","volume":"121","author":"Ma","year":"2011","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.gene.2016.04.006_bb0075","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1016\/j.molcel.2005.02.021","article-title":"Structural bases of unphosphorylated STAT1 association and receptor binding","volume":"17","author":"Mao","year":"2005","journal-title":"Mol. Cell"},{"key":"10.1016\/j.gene.2016.04.006_bb0080","doi-asserted-by":"crossref","first-page":"3372","DOI":"10.1101\/gad.1485406","article-title":"Dephosphorylation of phosphotyrosine on STAT1 dimers requires extensive spatial reorientation of the monomers facilitated by the N-terminal domain","volume":"20","author":"Mertens","year":"2006","journal-title":"Genes Dev."},{"key":"10.1016\/j.gene.2016.04.006_bb0095","doi-asserted-by":"crossref","first-page":"1691","DOI":"10.1016\/j.jaci.2013.01.004","article-title":"Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival","volume":"131","author":"Romberg","year":"2013","journal-title":"J. Allergy Clin. Immunol."},{"key":"10.1016\/j.gene.2016.04.006_bb0100","doi-asserted-by":"crossref","first-page":"1624","DOI":"10.1016\/j.jaci.2013.01.052","article-title":"Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis","volume":"131","author":"Sampaio","year":"2013","journal-title":"J. Allergy Clin. Immunol."},{"key":"10.1016\/j.gene.2016.04.006_bb0105","doi-asserted-by":"crossref","first-page":"e29248","DOI":"10.1371\/journal.pone.0029248","article-title":"STAT1 hyperphosphorylation and defective IL12R\/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis","volume":"6","author":"Smeekens","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.gene.2016.04.006_bb0110","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1136\/jmedgenet-2013-101570","article-title":"New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe","volume":"50","author":"Solt\u00e9sz","year":"2013","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2016.04.006_bb0115","doi-asserted-by":"crossref","first-page":"e69903","DOI":"10.1371\/journal.pone.0069903","article-title":"Clinically relevant dimer interface mutants of STAT1 transcription factor exhibit differential gene expression","volume":"8","author":"Staab","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.gene.2016.04.006_bb0120","doi-asserted-by":"crossref","first-page":"1521","DOI":"10.4049\/jimmunol.1200926","article-title":"Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain","volume":"189","author":"Takezaki","year":"2012","journal-title":"J. Immunol."},{"key":"10.1016\/j.gene.2016.04.006_bb0125","doi-asserted-by":"crossref","first-page":"1611","DOI":"10.1016\/j.jaci.2012.11.054","article-title":"Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome","volume":"131","author":"Uzel","year":"2013","journal-title":"J. Allergy Clin. Immunol."},{"key":"10.1016\/j.gene.2016.04.006_bb0130","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1056\/NEJMoa1100102","article-title":"STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis","volume":"365","author":"van de Veerdonk","year":"2011","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.gene.2016.04.006_bb0140","doi-asserted-by":"crossref","first-page":"9238","DOI":"10.1073\/pnas.0802130105","article-title":"Tyrosine phosphorylation regulates the partitioning of STAT1 between different dimer conformations","volume":"105","author":"Wenta","year":"2008","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.gene.2016.04.006_bb0145","doi-asserted-by":"crossref","first-page":"3966","DOI":"10.1073\/pnas.0501063102","article-title":"Implications of an antiparallel dimeric structure of nonphosphorylated STAT1 for the activation-inactivation cycle","volume":"102","author":"Zhong","year":"2005","journal-title":"Proc. Natl. Acad. Sci. U. S. A."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111916302542?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111916302542?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,13]],"date-time":"2018-09-13T13:21:17Z","timestamp":1536844877000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111916302542"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7]]},"references-count":25,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,7]]}},"alternative-id":["S0378111916302542"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2016.04.006","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2016,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Common variable immunodeficiency, impaired neurological development and reduced numbers of T regulatory cells in a 10-year-old boy with a STAT1 gain-of-function mutation","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2016.04.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}