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

Koo, Sara; Kejariwal, Deepak; Al-Shehri, Tariq; Dhar, Anjan; Lilić, Desa

doi:10.1177/2050640616684404

Cited by 34 publications

(25 citation statements)

References 16 publications

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“…Patients with CMC have an increased risk of both oral and oesophageal cancer (Koo, Kejariwal, Al‐Shehri, Dhar, & Lilic, ; Mohd Bakri, Mohd Hussaini, Rachel Holmes, David Cannon, & Mary, ), with patients often presenting at a much younger age than those without CMC. In the Toubiana paper, 6% of CMC patients developed cancer at a median age of 43, compared to an age‐adjusted expected rate of 1.1%, with the majority developing squamous cell carcinomas of skin, larynx and gastrointestinal tract.…”

Section: Discussionmentioning

confidence: 99%

Chronic mucocutaneous candidiasis due to gain‐of‐function mutation in STAT1

et al. 2018

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Chronic mucocutaneous candidiasis (CMC) is a heterogenous group of primary immunodeficiency diseases characterised by susceptibility to chronic or recurrent superficial Candida infection of skin, nails and mucous membranes. Gain-of-function mutations in the STAT1 gene (STAT1-GOF) are the most common genetic aetiology for CMC, and mutation analysis should be considered. These mutations lead to defective responses in Type 1 and Type 17 helper T cells (Th1 and Th17), which, depending on the mutation, also predispose to infection with Staphylococci, Mycobacteria and Herpesviridae. We describe the clinical and genetic findings for three patients with CMC due to gain-of-function mutations in the STAT1 gene.

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Section: Discussionmentioning

confidence: 99%

Chronic mucocutaneous candidiasis due to gain‐of‐function mutation in STAT1

et al. 2018

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“…The cause of muco-cutaneous candidiasis in these patients, a hallmark of the disease, was initially unknown and not attributed to autoimmune dysfunction [4]. More recent studies found that the disruption of the T helper-17 cell (Th-17)-based adaptive immunity to fungal infection is responsible for the chronic mucocutaneous candidiasis (CMC) [9]. Patients with APS type1 produce autoantibodies against specific Th-17 cells cytokines mainly IL17A, IL-17F, and IL-22 thus disrupting the innate antifungal immunity [9,10].…”

Section: Discussionmentioning

confidence: 99%

“…More recent studies found that the disruption of the T helper-17 cell (Th-17)-based adaptive immunity to fungal infection is responsible for the chronic mucocutaneous candidiasis (CMC) [9]. Patients with APS type1 produce autoantibodies against specific Th-17 cells cytokines mainly IL17A, IL-17F, and IL-22 thus disrupting the innate antifungal immunity [9,10]. Hypoparathyroidism is usually the first endocrine disorder to manifest during the course of the disease and has been reported in about 70-93% of cases.…”

Section: Discussionmentioning

confidence: 99%

Autoimmune polyglandular syndrome type 1: a case report and brief review

Nwosu

Oladiran

Ogbonna-Nwosu

et al. 2019

Journal of Community Hospital Internal Medicine Perspectives

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Autoimmune polyglandular syndrome (APS) type 1 is a rare autoimmune disorder inherited in an autosomal recessive pattern due to loss of function of the AIRE gene and defective removal of selfreactive T-lymphocytes during the process of thymic T cell maturation. Its manifestation starts early in life with the cardinal clinical disorders being one of muco-cutaneous candidiasis, Addison's disease, and hypoparathyroidism. Recognizing the syndromic nature of one autoimmune disease will facilitate an active search for other conditions which would allow early detection, management, follow-up, and most importantly patient education and counselling to avoid potential complications. We present the case of a young immigrant with multiple endocrinopathies and mucocutaneous candidiasis who presented with features of adrenal insufficiency. Our aim was to briefly review APS type 1 as a disease entity and to highlight the importance of patient education in its management.

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“… 13 STAT1 GOF variants are also reported to be associated with various kinds of infectious disease, autoimmune disease, cerebral aneurysms, and cancer. 9 10 11 12 13 15 16 17 18 Regarding these topics, Toubiana, et al 9 recently reported detailed clinical spectrums in 274 patients from 40 countries with STAT1 1 GOF pathogenic variant: 98% of them had CMC, 37% had autoimmune manifestations, 21% had bronchiectasis, and 6% had mycobacterial infections, including tuberculosis and NTM infections.…”

Section: Discussionmentioning

confidence: 99%

Bronchiectasis and Recurrent Respiratory Infections with a De Novo STAT1 Gain-of-Function Variant: First Case in Korea

et al. 2018

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Bronchiectasis is a chronic disease characterized by airway infection and inflammation, leading to permanent dilation of the bronchi. Evaluation of underlying etiology is important in managing young bronchiectasis patients with recurrent infections caused by unusual pathogens. The signal transducer and activator of transcription 1 (STAT1) protein plays a key role in STAT signaling and immune system regulation. Heterozygotes for gain-of-function (GOF) alleles of the STAT1 gene usually display autosomal dominant chronic mucocutaneous candidiasis (CMC) and a wide range of clinical features, such as bronchiectasis. Here, we report on a patient with CMC and bronchiectasis with various types of infections who carried a pathogenic variant of the STAT1 gene. The 24-year-old female presented with recurrent respiratory bacterial and nontuberculous mycobacterial infections complicated by severe bronchiectasis and CMC. Whole-exome sequencing revealed a c.800C>T (p.Ala267Val) heterozygous mutation in the STAT1 gene. Further analysis by Sanger sequencing of STAT1 from the patient and her parents revealed the patient had a de novo occurrence of the variant. This is the first report of a Korean patient with a GOF pathogenic variant in STAT1. Physicians should be aware of the existence of this variant as a genetic factor associated with CMC and bronchiectasis complicated by recurrent infection.

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

Abstract: CMC is not a well-recognised 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.

Cited by 34 publications

References 16 publications

Chronic mucocutaneous candidiasis due to gain‐of‐function mutation in STAT1

Chronic mucocutaneous candidiasis due to gain‐of‐function mutation in STAT1

Autoimmune polyglandular syndrome type 1: a case report and brief review

Bronchiectasis and Recurrent Respiratory Infections with a De Novo STAT1 Gain-of-Function Variant: First Case in Korea

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