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Purpose To describe a case of autosomal-dominant (AD)-chronic mucocutaneous candidiasis (CMC) with a signal transducer and activator of transcription (STAT) 1 gene mutation, and some of the important complications of this disease such as chronic hepatitis. Methods We present a 23-year-old woman with CMC, chronic active hepatitis, and hypothyroidism. Her father also had CMC. We performed several immunological analyses of blood and liver samples, and searched for gene mutations for CMC in the patient and her father. Results We identified the heterozygous substitution c.821 G > A (p.Arg274Gln) in the STAT1 gene of both the patient and her father. The level of β-glucan induced interferon (IFN)-γ in her blood cells was significantly low. Immunoblot analysis detected serum anti-interleukin (IL)-17 F autoantibody. She was found to have increased (low-titer) antibodies related to her hypothyroidism and hepatitis. Her serum IL-18 levels fluctuated with her AST and ALT levels. Liver biopsy revealed CD68-positive cell infiltration and IL-18 expression in the sinusoidal regions. These results suggest that the chronic active hepatitis in this patient may be exacerbated by the excessive IL-18 accumulation caused by recurrent mucocutaneous fungal infection, and decreased IFN-γ production. Conclusions AD-CMC is known to be caused by a gain-of-function mutation of the STAT1 gene. Chronic active hepatitis is a rare complication of AD-CMC, with currently unknown pathogenesis. It seems that the clinical phenotype in this patient is modified by autoimmune mechanisms and cytokine dysregulation. AD-CMC can be complicated by various immune disorders including autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

This case report presents a young girl in her early childhood diagnosed with chronic mucocutaneous candidiasis (CMC) and primary hypothyroidism. Genetic analysis revealed a novel de novo mutation in the STAT1 gene (exon 11, c.972C>G, p.Cys324Trp), adding to the existing literature on STAT1 mutations, which account for approximately 53% of CMC cases. The identified mutation is predicted to have a more severe pathogenic impact based on PolyPhen-2 scoring. Our findings emphasise the importance of comprehensive genetic testing in CMC diagnosis and suggest that the specific mutation site may correlate with disease prognosis. The case underscores the need for vigilant monitoring and targeted therapeutic interventions, given the potential for poorer outcomes.

Mucocutaneous candidiasis (almost endogenous) is one of the most common manifestations of human immunodeficiency virus (HIV) infection. The aim of this study was the investigation of colonization patterns of Candida species, particularly C. dubliniensis, among mucosal sites of HIV-positive patients and determining corresponding in vitro susceptibility patterns to the antifungals. From July 2006 to May 2008, specimens from the mucosal sites of 273 seropositive HIV patients were collected for Candida colonization. All isolates were identified by standard methods and carbohydrate assimilation patterns. Isolates phenotypically identified as C. albicans or C. dubliniensis were subjected to molecular identification. Susceptibility patterns of the isolated species to seven antifungal agents were determined using the broth microdilution method. The 359 samples from mucosal sites which consisted of 273 oral and 86 vaginal were collected and evaluated for Candida species distributions and their corresponding susceptibility patterns. The most commonly isolated species were: C. albicans (50%) followed by C. glabrata (21.4%), C. dubliniensis (13.3%, reported for the first time in Iran), C. krusei (9.8%), C. kefyr (3.1%), C. parapsilosis (1.6%), and C. tropicalis (0.8%). All species were sensitive to amphotencin B, ketoconazole, nystatin, voriconazole, and caspofungin. In some isolates, resistance to fluconazole and itraconazole was noted. As demonstrated, resistance to fluconazole and itraconazole, the most frequent antifungals in use in the region suggests regular investigation into antifungal resistance in medical centers should be undertaken in order to promote the effective management of invasive candidiasis in HIV/AIDS patients.

Various infectious agents are classical risk factors for cancer including bacteria, viruses and parasites. There is less evidence concerning the implication of fungal infection in carcinogenesis. The role of chronic Candida infection in the development of squamous cell carcinoma has been suspected for years. Candida sp are more prevalent in potentially malignant disorder and cancer of the oral mucosa. Other epidemiological evidence of a link between Candida infection and cancer is what is observed in patients with Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED). Oral and oesophagal carcinoma are frequent in these patients with chronic mucocutaneous candidiasis. Production of nitrosamine and metabolism of procarcinogen are mecanisms in which Candida sp may be involved in oral cancer development. In chromomycosis and lobomycosis chronic lesions may have a risk of malignant transformation. A diagnosis of paracoccidioidomycosis appears to increase the risk of lung cancer.

Although fungal brain infections are not uncommon, intracranial granulomas due to fungi are rare. Immunodeficiency is considered to be the main predisposing factor. We have presented the case of a 21-year-old lady admitted to the emergency ward with the clinical picture of impending brain herniation. She was a known case of chronic mucocutaneous candidiasis (CMCC) since childhood and had been under oral topical nystatin treatment which she had arbitrarily discontinued for the past ten years. The patient underwent emergent craniotomy and resection of the lesion. Pathologic exam revealed its fungal granulomatous nature. Cultures documented Candida albicans as the offending pathogen. The history of immunodeficiency was a useful clue in this case. To the best of our knowledge, this was the first case of fungal granuloma of the brain in the setting of chronic mucocutaneous candidiasis.

Chronic mucocutaneous candidiasis (CMC) is a syndrome characterised by immune deficiency, often presenting familial dominant inheritance and association with autoimmune endocrinopathies. We report on a patient with CMC who died at 5 years of age of a brain haemorrhage following the rupture of a basilar-artery aneurysm. Candida hyphae in the basilar artery were found at autopsy. A common immunologic abnormality in CMC is the failure of patient’s T-lymphocytes to produce cytokines, which are essential for expression of cell-mediated immunity to Candida . Therefore, long-term treatment is mandatory.

Human inborn errors of immunity mediated by the cytokines interleukin-17A and interleukin-17F (IL-17A/F) underlie mucocutaneous candidiasis, whereas inborn errors of interferon-γ (IFN-γ) immunity underlie mycobacterial disease. We report the discovery of bi-allelic RORC loss-of-function mutations in seven individuals from three kindreds of different ethnic origins with both candidiasis and mycobacteriosis. The lack of functional RORγ and RORγT isoforms resulted in the absence of IL-17A/F-producing T cells in these individuals, probably accounting for their chronic candidiasis. Unexpectedly, leukocytes from RORγ- and RORγT-deficient individuals also displayed an impaired IFN-γ response to Mycobacterium. This principally reflected profoundly defective IFN-γ production by circulating γδ T cells and CD4(+)CCR6(+)CXCR3(+) αβ T cells. In humans, both mucocutaneous immunity to Candida and systemic immunity to Mycobacterium require RORγ, RORγT, or both.

Mucocutaneous candidiasis caused by Candida albicans is a common complication of human immunodeficiency virus (HIV) infection. Recent reports of isolation of resistant strains of C. albicans raise the specter of more widespread resistance, but limited series are available to analyze situations in which the likelihood of resistance is greatest. We present our experience with fluconazole-resistant candidiasis in patients with HIV infection obtained from retrospective chart review and by testing strains of C. albicans isolated during relapse for susceptibility to antifungal agents. The possible reasons for failure of antifungal therapy are discussed, as well the correlation between in vivo and in vitro data. Resistant candidiasis in patients with HIV disease is an emerging problem of considerable concern that merits further study.

We describe the clinical and immunological features of two families with chronic mucocutaneous candidiasis (CMC) and primary hypothyroidism. Family A includes three siblings with both candidiasis and hypothyroidism and four individuals with hypothyroidism only. Family B includes four members with candidiasis, of whom one (a male child) also had hypothyroidism. All individuals affected with CMC had suffered from oral candidiasis and onychomycosis since infancy. Facial seborrhoic dermatitis, general folliculitis and scaling blepharitis were main manifestations. Hypothyroidism became evident during childhood. No thyroid antibodies were present in the affected siblings in family A, while the male in family B with hypothyroidism had antibodies against thyroid peroxidase at diagnosis. Immunological evaluation revealed intra-individual variations in serum immunoglobulin levels, lymphocyte subsets and proliferative responses, but there were no consistent abnormalities. Vaccine responses were normal. AIRE gene region microsatellite markers did not segregate with disease nor were autoantibodies typical for autoimmune polyendocrine syndrome type 1 detected in the families. The link between hypothyroidism and chronic mucocutaneous candidiasis remains to be identified.

Prototheca species are ubiquitous, aerobic, unicellular algae that are considered a possible mutation of the green algae, genus Chorella. These organisms are found in a wide range of environmental sites such as slime flux of trees, collecting systems of domestic or municipal sewage, marine water, and soil. Protothecal infections are extremely rare in humans. Three major clinical syndromes of human protothecosis have been described: cutaneous and subcutaneous infections, a localized form involving the articular bursae, and a disseminated form occurring in immunocompromised hosts. We describe a patient with chronic mucocutaneous candidiasis (CMC) who developed intractable intestinal protothecosis, resistant to treatment with amphotericin B and itraconazole, that responded partially to IFN- gamma .