Autosomal dominant chronic mucocutaneous candidiasis and primary hypothyroidism complicated by oesophageal carcinoma

Koch, D; Lilić, Desa; Carmichael, Andrew

doi:10.1111/j.1365-2230.2009.03561.x

Cited by 13 publications

(11 citation statements)

References 7 publications

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“…Moreover, autoimmune diseases, including thyroid autoimmunity and hepatitis, have been described 11–16. Finally, there is an associated risk of oral and oesophageal squamous cell carcinoma13 17 18 and cerebral aneurysms 19–21…”

Section: Introductionmentioning

confidence: 99%

A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis

et al. 2015

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During recent years, inborn errors of human IL-17 immunity have been demonstrated to underlie primary immunodeficiencies with chronic mucocutaneous candidiasis (CMC). Various defects in receptors responsible for sensing of Candida albicans or downstream signalling to IL-17 may lead to susceptibility to Candida infection. While CMC is common in patients with profound T cell immunodeficiencies, CMC is also recognised as part of other immunodeficiencies in syndromic CMC, or as relatively isolated CMC disease. We describe a 40-year-old woman with a clinical picture involving cutaneous bacterial abscesses, chronic oral candidiasis and extensive dermatophytic infection of the feet. By whole exome sequencing, we identified a STAT1-gain-of-function mutation. Moreover, the patient's peripheral blood mononuclear cells displayed severely impaired Th17 responses. The patient was treated with antifungals and prophylactic antibiotics, which led to resolution of the infection. We discuss the current knowledge within the field of Th17 deficiency and the pathogenesis and treatment of CMC.

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Section: Introductionmentioning

confidence: 99%

A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis

et al. 2015

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“…Invasive candidiasis (15, 34), dermatophytosis (25, 26), bacterial infections of the respiratory tract and staphylococcal diseases of the skin (32, 33, 61) have been reported in a few patients. In addition, some patients with CMCD display thyroid autoimmunity (2, 22, 27, 35, 38, 45, 54, 56–58). Finally, CMCD is generally debilitating, but may also be life-threatening, due to the associated risks of oral or oesophageal squamous cell carcinoma (20, 30, 50, 54, 56) and cerebral aneurysm (31, 36, 37, 49, 56).…”

Section: Introductionmentioning

confidence: 99%

Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis

Puel

Cypowyj

Maródi

et al. 2012

Current Opinion in Allergy &Amp; Clinical Immunology

280

214

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Purpose of review Chronic mucocutaneous candidiasis (CMC) is characterised by recurrent or persistent symptomatic infection of the nails, skin and mucosae mostly by Candida albicans. CMC is common in patients with profound primary T-cell immunodeficiency, who often display multiple infectious and autoimmune diseases. Patients with syndromic CMC, including autosomal dominant (AD) hyper IgE syndrome (HIES) and autosomal recessive (AR) autoimmune polyendocrinopathy syndrome type I (APS-I), display fewer other infections. Patients with isolated CMC (CMCD) rarely display any other severe disease. We review here recent progress in the genetic dissection of these three types of inherited CMC. Recent findings Low IL-17 T cell proportions were reported in patients with AD-HIES bearing heterozygous STAT3 mutations, prone to CMC and staphylococcal diseases, and in a kindred with AR CARD9 deficiency, prone to CMC and other fungal infections. High levels of neutralising autoantibodies against IL-17 cytokines were documented in patients with APS-I presenting with CMC as their only infectious disease. The first three genetic aetiologies of CMCD were then reported: AR IL-17RA and AD IL-17F deficiencies and AD STAT1 gain-of-function, impairing IL-17-producing T cell development. Summary Inborn errors of human IL-17 immunity underlie CMC. Impaired IL-17 immunity may therefore account for CMC in other settings, including patients with acquired immunodeficiency.

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“…Apart from APECED, candidiasis can be accompanied by isolated hypothyreoidism or diseases of the thyroid gland including Riedel thyreoiditis, but the genetic background of these syndromes remains unclear [23,34,35].…”

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confidence: 99%

“…Oral candidiasis has been shown to be a prognostic marker in HIV-positive individuals: HIV-infected adult patients and children with candidiasis progress more rapidly to AIDS than patients without candidiasis [7,19,20]. Oral candidiasis and oesophageal candidiasis may increase the risk for the development of oesophageal cancer, hence an adequate therapy and follow-up of those patients is recommended [21][22][23].…”

mentioning

confidence: 99%

Chronic mucocutaneous candidiasis and congenital susceptibility to Candida

Glocker

Grimbacher

2010

Current Opinion in Allergy &Amp; Clinical Immunology

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Autosomal dominant chronic mucocutaneous candidiasis and primary hypothyroidism complicated by oesophageal carcinoma

Cited by 13 publications

References 7 publications

A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis

A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis

Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis

Chronic mucocutaneous candidiasis and congenital susceptibility to Candida

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