{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T06:33:54Z","timestamp":1774852434046,"version":"3.50.1"},"reference-count":66,"publisher":"Akademiai Kiado Zrt.","issue":"2","content-domain":{"domain":["akjournals.com"],"crossmark-restriction":true},"short-container-title":["Acta Microbiologica et Immunologica Hungarica"],"published-print":{"date-parts":[[2017,6,8]]},"abstract":"<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\u2013genotype studies are required to define the clinical phenotype caused by AD <jats:italic>STAT1<\/jats:italic> GOF.<\/jats:p>","DOI":"10.1556\/030.64.2017.014","type":"journal-article","created":{"date-parts":[[2017,6,9]],"date-time":"2017-06-09T12:01:43Z","timestamp":1497009703000},"page":"191-201","update-policy":"https:\/\/doi.org\/10.1556\/policypage.crossmark.crossref.1","source":"Crossref","is-referenced-by-count":17,"title":["A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis"],"prefix":"10.1556","volume":"64","author":[{"given":"Narges","family":"Eslami","sequence":"first","affiliation":[{"name":"1 Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran"},{"name":"2 Department of Allergy and Clinical Immunology, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marzieh","family":"Tavakol","sequence":"additional","affiliation":[{"name":"3 Department of Allergy and Clinical Immunology, Shahid Bahonar Hospital, Alborz University of Medical Sciences, Karaj, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehrnaz","family":"Mesdaghi","sequence":"additional","affiliation":[{"name":"2 Department of Allergy and Clinical Immunology, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad","family":"Gharegozlou","sequence":"additional","affiliation":[{"name":"4 Department of Allergy and Immunology, Children\u2019s Medical Center, Tehran University of Medical Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-Laurent","family":"Casanova","sequence":"additional","affiliation":[{"name":"5 St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA"},{"name":"6 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, French National Institute of Health and Medical Research (INSERM), Paris, France"},{"name":"7 Imagine Institute, Paris Descartes University, Paris, France"},{"name":"8 Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France"},{"name":"9 Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Puel","sequence":"additional","affiliation":[{"name":"5 St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA"},{"name":"6 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, French National Institute of Health and Medical Research (INSERM), Paris, France"},{"name":"7 Imagine Institute, Paris Descartes University, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoshi","family":"Okada","sequence":"additional","affiliation":[{"name":"5 St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA"},{"name":"9 Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saba","family":"Arshi","sequence":"additional","affiliation":[{"name":"1 Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad Hassan","family":"Bemanian","sequence":"additional","affiliation":[{"name":"1 Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Morteza","family":"Fallahpour","sequence":"additional","affiliation":[{"name":"1 Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rasool","family":"Molatefi","sequence":"additional","affiliation":[{"name":"1 Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran"},{"name":"10 Department of Allergy and Clinical Immunology, Bu Ali Children\u2019s Hospital, Ardabil University of Medical Sciences, Ardabil, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farhad","family":"Seif","sequence":"additional","affiliation":[{"name":"11 Department Immunology, School Medicine, Iran University of Medical Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samaneh","family":"Zoghi","sequence":"additional","affiliation":[{"name":"12 Research Center for Immunodeficiencies, Children\u2019s Medical Center, Tehran University of Medical Sciences, Tehran, Iran"},{"name":"13 Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran"},{"name":"14 Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nima","family":"Rezaei","sequence":"additional","affiliation":[{"name":"12 Research Center for Immunodeficiencies, Children\u2019s Medical Center, Tehran University of Medical Sciences, Tehran, Iran"},{"name":"13 Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran"},{"name":"15 Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Boston, MA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad","family":"Nabavi","sequence":"additional","affiliation":[{"name":"1 Department of Allergy and Clinical Immunology, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"ref71","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.jaci.2008.04.037","article-title":"Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced TH17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome","volume":"122","author":"Renner","year":"2008","journal-title":"J Allergy Clin Immunol"},{"key":"ref301","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 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