Chronic Hyperplastic Candidiasis and Squamous Carcinoma

Williamson, D. M.

doi:10.1111/j.1365-2133.1969.tb15992.x

Cited by 46 publications

(32 citation statements)

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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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“…The phenotype is not strictly limited to CMC, as these patients often display other infections, such as staphylococcal cutaneous disease, and even autoimmune manifestations, such as thyroiditis (Atkinson et al, 2001; Liu et al, 2011b). Moreover, this condition is not benign, as the patients may develop mucocutaneous carcinomas and cerebral aneurysms (Leroy et al, 1989; Williamson, 1969). Complete AR IL-17RA deficiency and partial AD IL-17F deficiency were the first two genetic etiologies of CMCD to be discovered (Puel et al, 2011).…”

Section: Introductionmentioning

confidence: 99%

An ACT1 Mutation Selectively Abolishes Interleukin-17 Responses in Humans with Chronic Mucocutaneous Candidiasis

et al. 2013

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Patients with inborn errors of IL-17F or IL-17RA display chronic mucocutaneous candidiasis (CMC). We report a biallelic missense mutation (T536I) in the adaptor molecule ACT1 in two siblings with CMC. The mutation, located in the SEFIR domain, abolished the homotypic interaction of ACT1 with IL-17 receptors, with no effect on homodimerization. The patients’ fibroblasts failed to respond to IL-17A and IL-17F, and their T cells to IL-17E. By contrast, healthy individuals homozygous for the common variant D10N, located in the ACT1 TNF receptor-associated factor (TRAF)-interacting domain and previously associated with psoriasis, had impaired, but not abolished, responses to IL-17 cytokines. SEFIR-independent interactions of ACT1 with other proteins, such as CD40, heat shock protein (HSP)70 and HSP90, were not affected by the T536I mutation. Overall, human IL-17A and IL-17F depend on ACT1 to mediate protective mucocutaneous immunity. Moreover, other ACT1-dependent IL-17 cytokines seem to be largely redundant in host defense.

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“…The first sporadic cases were described in the 1960s and the first familial cases, typically with segregation as an AD trait or, more rarely, as an AR trait in some consanguineous families, were reported in the 1970s (16–19). Over the next 40 years, other sporadic and familial cases were reported (15, 20–60), suggesting that CMCD results from single-gene lesions in at least some patients. 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.…”

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

285

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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Chronic Hyperplastic Candidiasis and Squamous Carcinoma

Abstract: SUMMARY.— Two cases are reported with almost identical clinical appearances and with mycological findings consistent with a diagnosis of chronic hyperplastic candidiasis. On histological examination one proved to be a squamous carcinoma.

Cited by 46 publications

References 1 publication

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

An ACT1 Mutation Selectively Abolishes Interleukin-17 Responses in Humans with Chronic Mucocutaneous Candidiasis

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

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