Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0006849 (oral candidiasis)
 1,939 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is the first multiple autoimmune disease that has been shown to be caused by mutations of a single gene named autoimmune regulator (AIRE). Fourteen different mutations of the AIRE gene have been identified in 61 patients from 55 families with APECED. However, there has been no report documenting AIRE gene mutations in the Asian population. We report on 2 siblings with variable manifestations of APECED who were born to a Japanese mother and a Korean father. The 11yr-old girl had intractable thrush and ungual candidiasis, hypoparathyroidism, and occipital alopecia. The 9-yr-old boy had mild ungual candidiasis alone. Direct sequencing revealed novel frameshift mutations of the AIRE gene: an insertion of a cytosine at nucleotide 29635 at the exon 10 (29635insC), which should lead to a premature termination at the codon 371, producing a truncated protein missing the second plant homeodomain-type zinc finger motif and the third LXXLL motif, and a deletion of a guanine at nucleotide 33031 at the exon 13 (33031delG), which should result in a premature termination at the codon 520, yielding a truncated protein missing the third LXXLL motif. The mother was heterozygous for 29635insC, and the father was heterozygous for 33031delG. The frameshift mutations were undetected in 40 alleles of 20 Japanese control subjects. The results imply that the C-terminus of AIRE protein including the third LXXLL motif plays a critical role in the development of APECED, and that the phenotypic spectrum can vary between siblings with the same mutations.
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PMID:Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. 1094 4

Autoimmune polyglandular syndrome Type I (APS I) is a disorder defined by the presence of at least two of the following diseases: Addison's disease, hypoparathyroidism, and chronic mucocutaneous candidiasis. We present the case of a 45-yr-old woman, affected by APS I, in chronic treatment with betamethasone. She was referred to a Division of General Medicine for jaundice, ascites and peripheral edema attributed to worsening of pre-existing autoimmune chronic hepatitis. During hospitalization, the following drugs were given: Amoxicillin/Clavulanic acid and Levofloxacin for bronchopneumonia, Furosemide and Canreonate for renal impairment, Pantoprazole for gastric protection, and Itraconazole for oral candidiasis. After about a month, she developed widespread, sheet-like, epidermal detachment, with painful lesions of the conjunctiva, lips and mouth. Toxic epidermal necrolysis (TEN) was diagnosed, and the patient was transferred to a Burn Center, where she died 10 days after the first onset of cutaneous rash. Autoptic and histopathological findings (epidermal necrosis and detachment, lymphomonocytic infiltration of the dermis) confirmed the clinical diagnosis. TEN is a usually drug-induced cutaneous inflammatory disorder characterized by extensive epidermal detachment and frequent mucosal involvement. It has also been associated with immuno-mediated disorders (HIV infection, graft-vs-host disease, systemic lupus erythematosus, mixed essential cryoglobulinemia), in keeping with immuno-mediated pathogenesis. We present, to our knowledge, the first report of TEN in a patient with APS I, and suggest that some pathogenetic mechanisms of APS I are shared with TEN. We stress how such a disease can occur in an autoimmune syndrome, even during corticosteroid treatment.
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PMID:Fatal toxic epidermal necrolysis in autoimmune polyglandular syndrome type I. 1527 83

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal recessive syndrome characterised by chronic mucocutaneous candidiasis (CMC) and multiple endocrine failures. While the spectrum and modalities of autoimmunity are the main objects of current research into APECED, unequivocal data on the efficiency of immune responses to infectious agents are still elusive. The in vitro ability of monocytes and polymorphonuclear leucocytes to phagocytise and kill bacteria and fungi, and the degree of activation of lymphocytes cultured with mitogens and Candida albicans were investigated by flow cytometry in 11 APECED patients and healthy subjects. In addition, a comparison of gamma-globulin and immunoglobulin (Ig) concentrations was performed, and a correlation was sought between oral fungal load and the anti-Candida antibody titre. No difference between APECED patients and healthy subjects was observed in the phagocyte function, although the patients had a larger number of monocytes. Similarly, cultured lymphocytes were equally activated in the two groups. The concentration of gamma-globulins was higher among APECED patients, and anti-Candida IgM and IgG correlated with current and past oral candidiasis respectively. APECED patients have efficient innate and adaptive immune responses against exogenous stimuli, and currently, the mechanisms of mucocutaneous anergy leading to the high prevalence of CMC in this syndrome remain to be elucidated.
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PMID:Innate and adaptive immunity in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. 1839 3

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, APS-I) is exceptionally common in Finland. Most patients have chronic oral candidiasis since childhood. Thus, most patients receive repeated courses of antifungals throughout their life. Eleven of our patients (31.4%) have become colonized with Candida albicans with decreased sensitivity to fluconazole. A total of 43 isolates of C. albicans from 23 APECED patients isolated during the years 1994 to 2004 were divided into 2 groups: fluconazole-susceptible dose-dependent (MIC, 16-32 microg/mL, 18 isolates) and fluconazole-susceptible (MIC <or=8 microg/mL, 25 isolates) groups. Antifungal activity of amphotericin B, echinocandins, and azoles was determined by the Clinical and Laboratory Standards Institute M27-A2 methodology. All isolates were highly susceptible to amphotericin B and echinocandins. Posaconazole and voriconazole were active against all isolates. Our data suggest that topical amphotericin B could continue to be a safe and active drug for daily administration for APECED patients. Posaconazole, voriconazole, and echinocandins may be useful in some complicated cases.
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PMID:Activity of amphotericin B, anidulafungin, caspofungin, micafungin, posaconazole, and voriconazole against Candida albicans with decreased susceptibility to fluconazole from APECED patients on long-term azole treatment of chronic mucocutaneous candidiasis. 1859 68

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder characterized by chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency. Chronic oral candidiasis is frequently the first manifestation of the condition. There is an increased incidence of oral squamous cell carcinomas at an early age in this population, and it is possible that chronic oral candidal infection has a role in oral carcinogenesis in patients with APECED. We present a case of multiple oral squamous cell carcinomas in a 35-year-old woman with chronic mucocutaneous candidiasis as a component of APECED. Our patient has had 3 confirmed oral squamous cell carcinomas to date, which have been managed with laser resection and ablation. She remains on systemic antifungal therapy and is under regular surveillance in a multidisciplinary head and neck clinic.
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PMID:Multiple oral squamous cell carcinomas associated with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. 2293 23

Autoimmune polyendocrinopathy syndrome type 1 (APS-1) is characterized by the presence of at least two out of three clinical features, which include chronic mucocutaneous candidiasis (CMC), Addison's disease and hypoparathyroidism. The authors' present an one and a half year old girl with recurrent oral thrush who presented with generalised afebrile seizure. Evaluation revealed severe hypocalcemia with low parathormone and normal vitamin D level consistent with hypoparathyroidism. In view of the oral candidiasis and hypoparathyroidism, a clinical possibility of autoimmune polyglandular syndrome (type 1) was strongly considered. Her mother, on subsequent pregnancy was subjected to gene analysis of the fetus (chorionic villus sampling) and also for this child (index case). Both the fetus and index child were confirmed to have the AIRE gene mutation of APS1. After detailed counseling the parents opted for medical termination of the pregnancy. In children who present with recurrent oral thrush we need to consider but also look beyond immunodeficiency.
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PMID:Recurrent oral thrush. 2408 95

We describe APS1 in a boy with generalized lipodystrophy, oral candidiasis, autoimmune hepatitis and adrenal insufficiency. It is the first time when generalized lipodystrophy is associated with APS1.
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PMID:Progressive Generalized Lipodystrophy as a Manifestation of Autoimmune Polyglandular Syndrome Type 1. 2689 Nov 19