Al-Shehri T

Dhar A

Kejariwal D

Koo S

Lilic D

Background: Oesophageal candidiasis is a common, usually self-limiting opportunistic infection, but long-term infectionwith Candida is known to predispose to oral and oesophageal squamous cell cancer (SCC). Permissive factors that lead toimmune 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 andimmunosuppressive 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 autoimmunepolyendocrinopathy syndrome type 1 (APS1)/APECED or in patients with an underlying gain-of-function STAT1 mutation(GOF-STAT1).Objective: To describe a new form of inherited/familial CMC with a high risk for developing squamous cell carcinoma of theoesophagus, due to a gain-of-function mutation in the STAT1 gene.Methods and results: This report describes a family of patients with CMC with confirmed GOF-STAT1 mutation. Thesepatients usually present with CMCD in childhood, have severe oral and oesophageal candidiasis accompanied by severedifficulty swallowing, chest pain, heartburn, and are at risk of developing oral and/or oesophageal SCC. This case seriesdescribes six patients in three generations of the same family, two of whom developed and died of SCC. We recommendregular endoscopic surveillance to detect early oesophageal neoplasia in patients with CMCD as well as urgent endoscopy insymptomatic patients.Conclusion: CMC is not a well-recognised condition in gastroenterology practice and clinicians need to be aware of thegenetics of the condition as well as the risk for oesophageal cancer so that they can counsel their patients and arrangesurveillance appropriatel

Oesophageal candidiasis and squamous cell cancer in patients with gain-of-function STAT1 gene mutation

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