{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1360285712974352000.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1556/030.64.2017.014"}},{"identifier":{"@type":"URI","@value":"http://www.akademiai.com/doi/full-xml/10.1556/030.64.2017.014"}},{"identifier":{"@type":"URI","@value":"https://akjournals.com/view/journals/030/64/2/article-p191.xml"}},{"identifier":{"@type":"URI","@value":"https://akjournals.com/downloadpdf/journals/030/64/2/article-p191.xml"}},{"identifier":{"@type":"PMID","@value":"28597685"}}],"resourceType":"学術雑誌論文(journal article)","dc:title":[{"@value":"A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis"}],"description":[{"type":"abstract","notation":[{"@value":"<jats:p>Heterozygous gain-of-function (GOF) mutations in the signal transducer and activator of transcription 1 (<jats:italic>STAT1</jats:italic>) have increasingly been identified as a genetic cause of autosomal-dominant (AD) chronic mucocutaneous candidiasis (CMC). In this article, we describe a 33-year-old man who experienced chronic refractory candidiasis, recurrent otitis media, and pneumonia resulting in bronchiectasis, severe oral and esophageal candidiases with strictures associated with hypothyroidism and immune hemolytic anemia. His son also suffered from persistent candidiasis, chronic diarrhea, poor weight gain, and pneumonia that resulted in his demise because of sepsis. The immunological workup showed that an inverse CD4/CD8 ratio and serum immunoglobulins were all within normal ranges. The laboratory data revealed failure in response to <jats:italic>Candida</jats:italic> lymphocyte transformation test. In addition, by Sanger sequencing method, we found a heterozygous mutation, <jats:italic>Thr385Met</jats:italic> (<jats:italic>T385M</jats:italic>), located in the DNA-binding domain of <jats:italic>STAT1</jats:italic>, which was previously shown to be GOF. These findings illustrate the broad and variable clinical phenotype of heterozygous <jats:italic>STAT1</jats:italic> GOF mutations. However, more clinical information and phenotype–genotype studies are required to define the clinical phenotype caused by AD <jats:italic>STAT1</jats:italic> GOF.</jats:p>"}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1380285712974352005","@type":"Researcher","foaf:name":[{"@value":"Narges Eslami"}],"jpcoar:affiliationName":[{"@value":"1 Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran"},{"@value":"2 Department of Allergy and Clinical Immunology, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285712974352001","@type":"Researcher","foaf:name":[{"@value":"Marzieh Tavakol"}],"jpcoar:affiliationName":[{"@value":"3 Department of Allergy and Clinical Immunology, Shahid Bahonar Hospital, Alborz University of Medical Sciences, Karaj, Iran"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285712974352006","@type":"Researcher","foaf:name":[{"@value":"Mehrnaz Mesdaghi"}],"jpcoar:affiliationName":[{"@value":"2 Department of Allergy and Clinical Immunology, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285712974352002","@type":"Researcher","foaf:name":[{"@value":"Mohammad Gharegozlou"}],"jpcoar:affiliationName":[{"@value":"4 Department of Allergy and Immunology, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285712974352011","@type":"Researcher","foaf:name":[{"@value":"Jean-Laurent Casanova"}],"jpcoar:affiliationName":[{"@value":"5 St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA"},{"@value":"6 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, French National Institute of Health and Medical Research (INSERM), Paris, France"},{"@value":"7 Imagine Institute, Paris Descartes University, Paris, France"},{"@value":"8 Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France"},{"@value":"9 Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285712974352012","@type":"Researcher","foaf:name":[{"@value":"Anne Puel"}],"jpcoar:affiliationName":[{"@value":"5 St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA"},{"@value":"6 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, French National Institute of Health and Medical Research (INSERM), Paris, France"},{"@value":"7 Imagine Institute, Paris Descartes University, Paris, France"}]},{"@id":"https://cir.nii.ac.jp/crid/1420564276167399168","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"80457241"},{"@type":"NRID","@value":"1000080457241"},{"@type":"NRID","@value":"9000414366707"},{"@type":"NRID","@value":"9000001195754"},{"@type":"NRID","@value":"9000411546103"},{"@type":"NRID","@value":"9000415310784"},{"@type":"NRID","@value":"9000367422593"},{"@type":"NRID","@value":"9000265572318"},{"@type":"NRID","@value":"9000380968806"},{"@type":"NRID","@value":"9000408791466"},{"@type":"NRID","@value":"9000019063333"},{"@type":"NRID","@value":"9000392827719"},{"@type":"NRID","@value":"9000367422410"},{"@type":"NRID","@value":"9000298897482"},{"@type":"NRID","@value":"9000414937996"},{"@type":"NRID","@value":"9000413767883"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/satokun"}],"foaf:name":[{"@value":"Satoshi Okada"}],"jpcoar:affiliationName":[{"@value":"5 St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA"},{"@value":"9 Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285712974352003","@type":"Researcher","foaf:name":[{"@value":"Saba Arshi"}],"jpcoar:affiliationName":[{"@value":"1 Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285712974352004","@type":"Researcher","foaf:name":[{"@value":"Mohammad Hassan Bemanian"}],"jpcoar:affiliationName":[{"@value":"1 Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285712974352013","@type":"Researcher","foaf:name":[{"@value":"Morteza Fallahpour"}],"jpcoar:affiliationName":[{"@value":"1 Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285712974352007","@type":"Researcher","foaf:name":[{"@value":"Rasool Molatefi"}],"jpcoar:affiliationName":[{"@value":"1 Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran"},{"@value":"10 Department of Allergy and Clinical Immunology, Bu Ali Children’s Hospital, Ardabil University of Medical Sciences, Ardabil, Iran"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285712974352008","@type":"Researcher","foaf:name":[{"@value":"Farhad Seif"}],"jpcoar:affiliationName":[{"@value":"11 Department Immunology, School Medicine, Iran University of Medical Sciences, Tehran, Iran"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285712974352014","@type":"Researcher","foaf:name":[{"@value":"Samaneh Zoghi"}],"jpcoar:affiliationName":[{"@value":"12 Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical 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