{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T07:02:31Z","timestamp":1778223751697,"version":"3.51.4"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,8,1]],"date-time":"2017-08-01T00:00:00Z","timestamp":1501545600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2017,8,1]],"date-time":"2017-08-01T00:00:00Z","timestamp":1501545600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["UEG Journal"],"published-print":{"date-parts":[[2017,8]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Oesophageal candidiasis is a common, usually self\u2010limiting opportunistic infection, but long\u2010term infection with <jats:italic>Candida<\/jats:italic> is known to predispose to oral and oesophageal squamous cell cancer (SCC). Permissive factors that lead to immune deficiencies can underlie persistent or recurring candidiasis, called chronic mucocutaneous candidiasis (CMC). Secondary immune deficiencies are most often due to human immunodeficiency virus (HIV) infection, antibiotic use and immunosuppressive treatment (steroids, chemotherapy). Inborn errors of the immune system (primary immune deficiencies) can present with isolated CMC known as CMC disease (CMCD), which is most often found in patients with autoimmune polyendocrinopathy syndrome type 1 (APS1)\/APECED or in patients with an underlying gain\u2010of\u2010function STAT1\u00a0mutation (GOF\u2010STAT1).<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To describe a new form of inherited\/familial CMC with a high risk for developing squamous cell carcinoma of the oesophagus, due to a gain\u2010of\u2010function mutation in the STAT1 gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and results<\/jats:title><jats:p>This report describes a family of patients with CMC with confirmed GOF\u2010STAT1\u00a0mutation. These patients usually present with CMCD in childhood, have severe oral and oesophageal candidiasis accompanied by severe difficulty swallowing, chest pain, heartburn, and are at risk of developing oral and\/or oesophageal SCC. This case series describes six patients in three generations of the same family, two of whom developed and died of SCC. We recommend regular endoscopic surveillance to detect early oesophageal neoplasia in patients with CMCD as well as urgent endoscopy in symptomatic patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>CMC is not a well\u2010recognised condition in gastroenterology practice and clinicians need to be aware of the genetics of the condition as well as the risk for oesophageal cancer so that they can counsel their patients and arrange surveillance appropriately.<\/jats:p><\/jats:sec>","DOI":"10.1177\/2050640616684404","type":"journal-article","created":{"date-parts":[[2016,12,8]],"date-time":"2016-12-08T01:35:20Z","timestamp":1481160920000},"page":"625-631","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":38,"title":["Oesophageal candidiasis and squamous cell cancer in patients with gain\u2010of\u2010function STAT1 gene mutation"],"prefix":"10.1002","volume":"5","author":[{"given":"Sara","family":"Koo","sequence":"first","affiliation":[{"name":"Departments of Gastroenterology and Clinical Immunology County Durham and Darlington NHS Foundation Trust County Durham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deepak","family":"Kejariwal","sequence":"additional","affiliation":[{"name":"Departments of Gastroenterology and Clinical Immunology County Durham and Darlington NHS Foundation Trust County Durham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tariq","family":"Al\u2010Shehri","sequence":"additional","affiliation":[{"name":"Institute of Cellular Medicine Newcastle University Newcastle\u2010upon\u2010Tyne UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anjan","family":"Dhar","sequence":"additional","affiliation":[{"name":"Departments of Gastroenterology and Clinical Immunology County Durham and Darlington NHS Foundation Trust County Durham UK"},{"name":"Faculty of Medicine Durham University Stockton\u2010on\u2010Tees UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Desa","family":"Lilic","sequence":"additional","affiliation":[{"name":"Departments of Gastroenterology and Clinical Immunology County Durham and Darlington NHS Foundation Trust County Durham UK"},{"name":"Institute of Cellular Medicine Newcastle University Newcastle\u2010upon\u2010Tyne UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,8]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mib.2012.06.003"},{"key":"e_1_2_7_3_2","first-page":"616","article-title":"Inborn errors of human IL\u201017 immunity underlie chronic mucocutaneous candidiasis","volume":"12","author":"Puel A","year":"2012","journal-title":"J Allergy Clin Immunol"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0133589"},{"key":"e_1_2_7_5_2","first-page":"1","article-title":"Severe esophageal candidiasis in an immunocompetent patient","volume":"5","author":"Baig M","year":"2005","journal-title":"Internet J Infect Dis"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20091983"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20091669"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1100102"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20110958"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/eji.201445344"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mmcr.2012.02.003"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-11-679902"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0029248"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.3402\/jom.v2i0.5780"},{"key":"e_1_2_7_15_2","doi-asserted-by":"crossref","unstructured":"Meissl K Macho\u2010Maschler S Muller M et al. 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