{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T01:03:43Z","timestamp":1791594223388,"version":"4.3.4"},"reference-count":170,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,12,12]],"date-time":"2023-12-12T00:00:00Z","timestamp":1702339200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Immunological Reviews"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    Germline human heterozygous\n                    <jats:italic>STAT1<\/jats:italic>\n                    gain\u2010of\u2010function (GOF) variants were first discovered a common cause of chronic mucocutaneous candidiasis (CMC) in 2011. Since then, numerous\n                    <jats:italic>STAT1<\/jats:italic>\n                    GOF variants have been identified. A variety of clinical phenotypes, including fungal, viral, and bacterial infections, endocrine disorders, autoimmunity, malignancy, and aneurysms, have recently been revealed for\n                    <jats:italic>STAT1<\/jats:italic>\n                    GOF variants, which has led to the expansion of the clinical spectrum associated with\n                    <jats:italic>STAT1<\/jats:italic>\n                    GOF. Among this broad range of complications, it has been determined that invasive infections, aneurysms, and malignancies are poor prognostic factors for\n                    <jats:italic>STAT1<\/jats:italic>\n                    GOF. The effectiveness of JAK inhibitors as a therapeutic option has been established, although further investigation of their long\u2010term utility and side effects is needed. In contrast to the advancements in treatment options, the precise molecular mechanism underlying\n                    <jats:italic>STAT1<\/jats:italic>\n                    GOF remains undetermined. Two primary hypotheses for this mechanism involve impaired STAT1 dephosphorylation and increased STAT1 protein levels, both of which are still controversial. A precise understanding of the molecular mechanism is essential for not only advancing diagnostics but also developing therapeutic interventions. Here, we provide a comprehensive review of\n                    <jats:italic>STAT1<\/jats:italic>\n                    GOF with the aim of establishing a stronger connection between bedside observations and laboratory research.\n                  <\/jats:p>","DOI":"10.1111\/imr.13300","type":"journal-article","created":{"date-parts":[[2023,12,12]],"date-time":"2023-12-12T17:11:39Z","timestamp":1702401099000},"page":"81-97","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Human\n                    <i>STAT1<\/i>\n                    gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research"],"prefix":"10.1111","volume":"322","author":[{"given":"Takaki","family":"Asano","sequence":"first","affiliation":[{"name":"Department of Pediatrics Hiroshima University Graduate School of Biomedical and Health Science  Hiroshima Japan"},{"name":"Department of Genetics and Cell Biology, Research Institute for Radiation Biology and Medicine Hiroshima University  Hiroshima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kosuke","family":"Noma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hiroshima University Graduate School of Biomedical and Health Science  Hiroshima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoko","family":"Mizoguchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hiroshima University Graduate School of Biomedical and Health Science  Hiroshima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuhei","family":"Karakawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hiroshima University Graduate School of Biomedical and Health Science  Hiroshima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4622-5657","authenticated-orcid":false,"given":"Satoshi","family":"Okada","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hiroshima University Graduate School of Biomedical and Health Science  Hiroshima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,12,12]]},"reference":[{"key":"e_1_2_15_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.4.1203"},{"key":"e_1_2_15_3_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.3.9.1362"},{"key":"e_1_2_15_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.16.7836"},{"key":"e_1_2_15_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.8197455"},{"key":"e_1_2_15_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.immuni.2012.03.016"},{"key":"e_1_2_15_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81443-9"},{"key":"e_1_2_15_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.coi.2012.04.011"},{"key":"e_1_2_15_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.coi.2021.02.009"},{"key":"e_1_2_15_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm909"},{"key":"e_1_2_15_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biochi.2010.02.009"},{"key":"e_1_2_15_12_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2020.606489"},{"key":"e_1_2_15_13_1","doi-asserted-by":"publisher","DOI":"10.7150\/ijbs.10464"},{"key":"e_1_2_15_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(02)00398-0"},{"key":"e_1_2_15_15_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.22.16.5662-5668.2002"},{"key":"e_1_2_15_16_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.268003"},{"key":"e_1_2_15_17_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1485406"},{"key":"e_1_2_15_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2016.09.035"},{"key":"e_1_2_15_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-020-00847-x"},{"key":"e_1_2_15_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/cei\/uxac106"},{"key":"e_1_2_15_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/imr.12272"},{"key":"e_1_2_15_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/cti.2016.71"},{"key":"e_1_2_15_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-020-02120-y"},{"key":"e_1_2_15_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-020-02141-7"},{"key":"e_1_2_15_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-022-01289-3"},{"key":"e_1_2_15_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1097"},{"key":"e_1_2_15_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)17552-1"},{"key":"e_1_2_15_28_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0020131"},{"key":"e_1_2_15_29_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.176.8.5078"},{"key":"e_1_2_15_30_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI37083"},{"key":"e_1_2_15_31_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2010-04-280586"},{"key":"e_1_2_15_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-010-9480-8"},{"key":"e_1_2_15_33_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20110958"},{"key":"e_1_2_15_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.coviro.2011.10.016"},{"key":"e_1_2_15_35_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-01-330571"},{"key":"e_1_2_15_36_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-012-9659-2"},{"key":"e_1_2_15_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22113"},{"key":"e_1_2_15_38_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2013.083741"},{"key":"e_1_2_15_39_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-11-679902"},{"key":"e_1_2_15_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2016.11.004"},{"key":"e_1_2_15_41_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-019-00672-x"},{"key":"e_1_2_15_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaip.2020.06.034"},{"key":"e_1_2_15_43_1","doi-asserted-by":"publisher","DOI":"10.1093\/intimm\/dxaa043"},{"key":"e_1_2_15_44_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.2001451"},{"key":"e_1_2_15_45_1","doi-asserted-by":"publisher","DOI":"10.1097\/ACI.0b013e328358cc0b"},{"key":"e_1_2_15_46_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0000000000000031"},{"key":"e_1_2_15_47_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1200439"},{"key":"e_1_2_15_48_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1618300114"},{"key":"e_1_2_15_49_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20141065"},{"key":"e_1_2_15_50_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.immuni.2013.09.002"},{"key":"e_1_2_15_51_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-019-00664-x"},{"key":"e_1_2_15_52_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13767"},{"key":"e_1_2_15_53_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-021-01026-2"},{"key":"e_1_2_15_54_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2020.12.629"},{"key":"e_1_2_15_55_1","doi-asserted-by":"publisher","DOI":"10.1111\/pai.13603"},{"key":"e_1_2_15_56_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-immunol-032712-095927"},{"key":"e_1_2_15_57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