{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T19:10:08Z","timestamp":1790536208289,"version":"4.1.0"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2017,8,16]],"date-time":"2017-08-16T00:00:00Z","timestamp":1502841600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"published-print":{"date-parts":[[2017,10]]},"DOI":"10.1007\/s10875-017-0430-6","type":"journal-article","created":{"date-parts":[[2017,8,16]],"date-time":"2017-08-16T07:40:08Z","timestamp":1502869208000},"page":"701-706","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Long-Term Survival After Hematopoietic Stem Cell Transplantation for Complete STAT1 Deficiency"],"prefix":"10.1007","volume":"37","author":[{"given":"Samuele","family":"Naviglio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Soncini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donatella","family":"Vairo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnalda","family":"Lanfranchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaele","family":"Badolato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fulvio","family":"Porta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,8,16]]},"reference":[{"key":"430_CR1","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1189\/jlb.5RI0516-237RR","volume":"101","author":"T Lorenzini","year":"2017","unstructured":"Lorenzini T, Dotta L, Giacomelli M, Vairo D, Badolato R. STAT mutations as program switchers: turning primary immunodeficiencies into autoimmune diseases. J Leukoc Biol. 2017;101:29\u201338.","journal-title":"J Leukoc Biol"},{"key":"430_CR2","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1016\/j.immuni.2012.03.016","volume":"36","author":"J-L Casanova","year":"2012","unstructured":"Casanova J-L, Holland SM, Notarangelo LD. Inborn errors of human JAKs and STATs. Immunity. 2012;36:515\u201328.","journal-title":"Immunity"},{"key":"430_CR3","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1016\/j.coi.2012.04.011","volume":"24","author":"S Boisson-Dupuis","year":"2012","unstructured":"Boisson-Dupuis S, Kong XF, Okada S, Cypowyj S, Puel A, Abel L, et al. Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes. Curr Opin Immunol. 2012;24:364\u201378.","journal-title":"Curr Opin Immunol"},{"key":"430_CR4","doi-asserted-by":"crossref","unstructured":"Boudjemaa S, Dainese L, H\u00e9ritier S, Masserot C, Hachemane S, Casanova J-L, et al. Disseminated BCG osteomyelitis related to STAT 1 gene deficiency mimicking a metastatic neuroblastoma. Pediatr Dev Pathol [Internet]. 2016 [cited 2017 Jul 4];16\u201302\u20131778\u2013CR.1. Available from: http:\/\/www.pedpath.org\/doi\/10.2350\/16-02-1778-CR.1 .","DOI":"10.2350\/16-02-1778-CR.1"},{"key":"430_CR5","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1172\/JCI37083","volume":"119","author":"A Chapgier","year":"2009","unstructured":"Chapgier A, Kong XF, Boisson-Dupuis S, Jouanguy E, Averbuch D, Feinberg J, et al. A partial form of recessive STAT1 deficiency in humans. J Clin Invest. 2009;119:1502\u201314.","journal-title":"J Clin Invest"},{"key":"430_CR6","doi-asserted-by":"crossref","unstructured":"Kong X-FF, Ciancanelli M, Al-Hajjar S, Alsina L, Zumwalt T, Bustamante J, et al. A novel form of human STAT1 deficiency impairing early but not late responses to interferons. Blood [Internet]. 2010 [cited 2013 Jul 4];116:5895\u2013906. Available from: http:\/\/www.pubmedcentral.nih.gov\/articlerender.fcgi?artid=3031383&tool=pmcentrez&rendertype=abstract .","DOI":"10.1182\/blood-2010-04-280586"},{"key":"430_CR7","first-page":"300","volume":"293","author":"S Dupuis","year":"2001","unstructured":"Dupuis S, Dargemont C, Fieschi C, Thomassin N, Rosenzweig S, Harris J, et al. Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. Science (80-. ). Laboratoire de Genetique Humaine des maladies Infectieuses, Universite de Paris Rene Descartes-INSERM UMR550, Faculte de Medecine Necker-Enfants Malades, 75015 Paris, France. 2001;293:300\u20133.","journal-title":"Science (80-. ). Laboratoire de Genetique Humaine des maladies Infectieuses, Universite de Paris Rene Descartes-INSERM UMR550, Faculte de Medecine Necker-Enfants Malades, 75015 Paris, France"},{"key":"430_CR8","first-page":"e131","volume":"2","author":"A Chapgier","year":"2006","unstructured":"Chapgier A, Boisson-Dupuis S, Jouanguy E, Vogt G, Feinberg J, Prochnicka-Chalufour A, et al. Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. PLoS.Genet. Laboratory of Human Genetics of Infectious Diseases, University of Paris Rene Descartes, INSERM U550, Necker Medical School, Paris, France. 2006;2:e131.","journal-title":"PLoS.Genet. Laboratory of Human Genetics of Infectious Diseases, University of Paris Rene Descartes, INSERM U550, Necker Medical School, Paris, France"},{"key":"430_CR9","doi-asserted-by":"crossref","unstructured":"Tsumura M, Okada S, Sakai H, Yasunaga S, Ohtsubo M, Murata T, et al. Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease. Hum. Mutat. [Internet]. 2012 [cited 2014 Dec 4];33:1377\u201387. Available from: http:\/\/www.pubmedcentral.nih.gov\/articlerender.fcgi?artid=3668973&tool=pmcentrez&rendertype=abstract .","DOI":"10.1002\/humu.22113"},{"key":"430_CR10","doi-asserted-by":"crossref","unstructured":"Sampaio EP, Bax HI, Hsu AP, Kristosturyan E, Pechacek J, Chandrasekaran P, et al. A novel STAT1 mutation associated with disseminated mycobacterial disease. J Clin Immunol [Internet]. 2012 [cited 2017 Mar 20];32:681\u20139. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22437822 .","DOI":"10.1007\/s10875-012-9659-2"},{"key":"430_CR11","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1038\/ng1097","volume":"33","author":"S Dupuis","year":"2003","unstructured":"Dupuis S, Jouanguy E, Al-Hajjar S, Fieschi C, Al-Mohsen IZ, Al-Jumaah S, et al. Impaired response to interferon-alpha\/beta and lethal viral disease in human STAT1 deficiency. Nat Genet. 2003;33:388\u201391.","journal-title":"Nat Genet"},{"key":"430_CR12","doi-asserted-by":"crossref","first-page":"5078","DOI":"10.4049\/jimmunol.176.8.5078","volume":"176","author":"A Chapgier","year":"2006","unstructured":"Chapgier A, Wynn RF, Jouanguy E, Filipe-Santos O, Zhang S, Feinberg J, et al. Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo. J Immunol. 2006;176:5078\u201383.","journal-title":"J Immunol"},{"key":"430_CR13","doi-asserted-by":"crossref","unstructured":"Vairo D, Tassone L, Tabellini G, Tamassia N, Gasperini S, Bazzoni F, et al. Severe impairment of IFN-\u03b3 and IFN-\u03b1 responses in cells of a patient with a novel STAT1 splicing mutation. Blood [Internet]. 2011 [cited 2013 Jul 4];118:1806\u201317. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/21772053 .","DOI":"10.1182\/blood-2011-01-330571"},{"key":"430_CR14","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1038\/ng.923","volume":"43","author":"P Ostergaard","year":"2011","unstructured":"Ostergaard P, Simpson MA, Connell FC, Steward CG, Brice G, Woollard WJ, et al. Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat Genet. 2011;43:929\u201331.","journal-title":"Nat Genet"},{"key":"430_CR15","unstructured":"Spinner MA, Sanchez LA, Hsu AP, Shaw PA, Zerbe CS, Calvo KR, et al. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics and immunity. Blood [Internet]. 2013 [cited 2013 Dec 10]; Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24227816 ."},{"key":"430_CR16","doi-asserted-by":"crossref","unstructured":"Kazenwadel J, Betterman KL, Chong C-E, Stokes PH, Lee YK, Secker GA, et al. GATA2 is required for lymphatic vessel valve development and maintenance. J Clin Invest [Internet]. 2015 [cited 2017 mar 9];125:2979\u201394. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26214525 .","DOI":"10.1172\/JCI78888"},{"key":"430_CR17","doi-asserted-by":"crossref","unstructured":"Nielsen SR, Hammer T, Gibson J, Pepper MS, Nisato RE, Dissing S, et al. IL-27 inhibits lymphatic endothelial cell proliferation by STAT1-regulated gene expression. Microcirculation [Internet]. 2013 [cited 2017 Mar 9];20:555\u201364. Available from: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23452095 .","DOI":"10.1111\/micc.12055"},{"key":"430_CR18","doi-asserted-by":"crossref","unstructured":"Crotta S, Davidson S, Mahlakoiv T, Desmet CJ, Buckwalter MR, Albert ML, et al.. Type I and type III interferons drive redundant amplification loops to induce a transcriptional signature in influenza-infected airway epithelia. Kawaoka Y, editor. PLoS Pathog. [Internet]. 2013 [cited 2017 Mar 9];9:e1003773. Available from: http:\/\/dx.plos.org\/10.1371\/journal.ppat.1003773 .","DOI":"10.1371\/journal.ppat.1003773"}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10875-017-0430-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-017-0430-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-017-0430-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,10,2]],"date-time":"2019-10-02T12:51:32Z","timestamp":1570020692000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10875-017-0430-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,16]]},"references-count":18,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2017,10]]}},"alternative-id":["430"],"URL":"https:\/\/doi.org\/10.1007\/s10875-017-0430-6","relation":{},"ISSN":["0271-9142","1573-2592"],"issn-type":[{"value":"0271-9142","type":"print"},{"value":"1573-2592","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,16]]}}}