{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T18:46:48Z","timestamp":1792522008412,"version":"4.5.0"},"reference-count":20,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2006,4,1]],"date-time":"2006-04-01T00:00:00Z","timestamp":1143849600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2006,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The autosomal recessive form of human complete Stat-1 deficiency is a rare disorder, thus far reported in two unrelated patients, both of whom developed disseminated bacillus Calmette-Gue\u0301rin (BCG) and subsequently died of viral illnesses before detailed studies of the condition could be performed. It is associated with impaired cellular responses to both IFN-\u03b3 and IFN-\u03b1\u03b2 via Stat-1-containing complexes. We describe a third patient with complete Stat-1 deficiency and disseminated BCG infection, who died 3 mo after bone marrow transplantation. The patient\u2019s EBV-transformed B cells did not express Stat-1 protein and did not activate Stat-1-containing transcription factors. We also report the ex vivo responses of a Stat-1-deficient patient\u2019s fresh blood cells to IFN-\u03b3 and the in vitro responses of a SV40-transformed fibroblastic cell line to IFN-\u03b3 and IFN-\u03b1\u03b2. There was no response to IFN-\u03b3 in terms of IL-12 production and HLA class II induction, accounting for vulnerability to BCG. Moreover, IFN-\u03b1\u03b2 did not suppress HSV and vesicular stomatitis virus replication in fibroblasts, although in vivo the patient was able to successfully clear at least some viruses. This study broadens our understanding of complete Stat-1 deficiency, a severe form of innate immunodeficiency. Stat-1 deficiency should be suspected in children with severe infections, notably but not exclusively patients with mycobacterial or viral diseases.<\/jats:p>","DOI":"10.4049\/jimmunol.176.8.5078","type":"journal-article","created":{"date-parts":[[2014,4,23]],"date-time":"2014-04-23T20:59:46Z","timestamp":1398286786000},"page":"5078-5083","source":"Crossref","is-referenced-by-count":189,"title":["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"],"prefix":"10.1093","volume":"176","author":[{"given":"Ariane","family":"Chapgier","sequence":"first","affiliation":[{"name":"Laboratoire de Ge\u0301ne\u0301tique Humaine des Maladies Infectieuses, Universite\u0301 de Paris Rene\u0301 Descartes-Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale, Unite\u0301 Mixte de Recherche R550, Faculte\u0301 de Me\u0301decine Necker-Enfants Malades , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert F","family":"Wynn","sequence":"additional","affiliation":[{"name":"Royal Manchester Children\u2019s Hospital , Manchester ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Jouanguy","sequence":"additional","affiliation":[{"name":"Laboratoire de Ge\u0301ne\u0301tique Humaine des Maladies Infectieuses, Universite\u0301 de Paris Rene\u0301 Descartes-Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale, Unite\u0301 Mixte de Recherche R550, Faculte\u0301 de Me\u0301decine Necker-Enfants Malades , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orchide\u0301e","family":"Filipe-Santos","sequence":"additional","affiliation":[{"name":"Laboratoire de Ge\u0301ne\u0301tique Humaine des Maladies Infectieuses, Universite\u0301 de Paris Rene\u0301 Descartes-Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale, Unite\u0301 Mixte de Recherche R550, Faculte\u0301 de Me\u0301decine Necker-Enfants Malades , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shenying","family":"Zhang","sequence":"additional","affiliation":[{"name":"Laboratoire de Ge\u0301ne\u0301tique Humaine des Maladies Infectieuses, Universite\u0301 de Paris Rene\u0301 Descartes-Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale, Unite\u0301 Mixte de Recherche R550, Faculte\u0301 de Me\u0301decine Necker-Enfants Malades , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline","family":"Feinberg","sequence":"additional","affiliation":[{"name":"Laboratoire de Ge\u0301ne\u0301tique Humaine des Maladies Infectieuses, Universite\u0301 de Paris Rene\u0301 Descartes-Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale, Unite\u0301 Mixte de Recherche R550, Faculte\u0301 de Me\u0301decine Necker-Enfants Malades , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kay","family":"Hawkins","sequence":"additional","affiliation":[{"name":"Royal Manchester Children\u2019s Hospital , Manchester ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Laurent","family":"Casanova","sequence":"additional","affiliation":[{"name":"Laboratoire de Ge\u0301ne\u0301tique Humaine des Maladies Infectieuses, Universite\u0301 de Paris Rene\u0301 Descartes-Institut National de la Sante\u0301 et de la Recherche Me\u0301dicale, Unite\u0301 Mixte de Recherche R550, Faculte\u0301 de Me\u0301decine Necker-Enfants Malades , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter D","family":"Arkwright","sequence":"additional","affiliation":[{"name":"University of Manchester, Booth Hall Children\u2019s Hospital , Manchester ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2006,4,15]]},"reference":[{"key":"2026020211393910000_R1","first-page":"923","volume-title":"New Biol.","year":"1990"},{"key":"2026020211393910000_R2","first-page":"1808","volume-title":"Science","year":"1992"},{"key":"2026020211393910000_R3","first-page":"651","volume-title":"Nat. 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