The Experts below are selected from a list of 3075 Experts worldwide ranked by ideXlab platform

Charles H. Kirkpatrick - One of the best experts on this subject based on the ideXlab platform.

  • Chronic Mucocutaneous Candidiasis.
    The Pediatric infectious disease journal, 2001
    Co-Authors: Charles H. Kirkpatrick
    Abstract:

    Chronic Mucocutaneous Candidiasis should be viewed as a spectrum of disorders in which the patients have persistent and/or recurrent Candidiasis of the skin, nails and mucous membranes. Some of the conditions have genetic predispositions. A common immunologic abnormality is failure of the patient's T lymphocytes to produce cytokines that are essential for expression of cell-mediated immunity to Candida. Antifungal drugs are effective in clearing the infections, and treatments that restore cellular immunity have produced long term remissions.

  • Chronic Mucocutaneous Candidiasis
    Journal of The American Academy of Dermatology, 1994
    Co-Authors: Charles H. Kirkpatrick
    Abstract:

    Chronic Mucocutaneous Candidiasis is a complex disorder in which patients have chronic and recurrent Candida albicans infections of the skin, nails, and mucous membranes. There are several subgroups of patients with chronic Mucocutaneous Candidiasis, and these can be identified by associated disorders such as autoimmune diseases, endocrinopathies, thymoma, and interstitial keratitis, as well as the distribution and severity of the Candida infections. Several other disorders may coexist in patients with chronic Mucocutaneous Candidiasis. These include other infectious diseases, endocrinopathies, dental enamel dysplasia, vitiligo, and alopecia totalis. Successful treatment programs should include antifungal drugs and manipulations that correct the immunologic abnormalities that predispose the patient to Candida infections.

Mihai G. Netea - One of the best experts on this subject based on the ideXlab platform.

  • Genetics of Chronic Mucocutaneous Candidiasis
    Immunogenetics of Fungal Diseases, 2017
    Co-Authors: Xiaowen Wang, Mihai G. Netea, Frank L. Van De Veerdonk
    Abstract:

    Chronic Mucocutaneous Candidiasis (CMC) is a group of disorders characterized by recurrent and persistent infections of the skin, nails, and mucosal membranes with Candida species. Genetic factors play a critical role in the pathogenesis of CMC. Various disorders that impair the sensing of Candida or downstream IL-17 signaling may cause CMC. This review will highlight novel findings regarding the genetics and pathogenesis of CMC in past few years.

  • Treatment options for chronic Mucocutaneous Candidiasis.
    The Journal of infection, 2016
    Co-Authors: Frank L. Van De Veerdonk, Mihai G. Netea
    Abstract:

    Autosomal dominant chronic Mucocutaneous Candidiasis (AD-CMC) is a rare and severe primary immunodeficiency that is characterized by Mucocutaneous fungal infection, autoimmunity, cerebral aneurysms, and oropharyngeal and esophageal cancer. Recently, it was discovered that STAT1 mutations are responsible for AD-CMC. These mutations lead to the inability of STAT1 to be dephosphorylated, resulting in hyperphosphorylation, increased binding to the DNA, and gain of function (GOF) effects on STAT1 signaling. Furthermore, a characteristic feature of AD-CMC patients is deficiency in the T-helper 17 (Th17) responses, which is believed to be the immunological cause of the Mucocutaneous fungal infection. No targeted treatment other than lifelong antifungal prophylaxis exists for AD-CMC. However, the discovery of the genetic and immunological defects makes it now possible to explore new treatment strategies. This review will discuss immunomodulatory treatment options that can be explored in patients with STAT1 GOF mutations.

Frank L. Van De Veerdonk - One of the best experts on this subject based on the ideXlab platform.

  • Genetics of Chronic Mucocutaneous Candidiasis
    Immunogenetics of Fungal Diseases, 2017
    Co-Authors: Xiaowen Wang, Mihai G. Netea, Frank L. Van De Veerdonk
    Abstract:

    Chronic Mucocutaneous Candidiasis (CMC) is a group of disorders characterized by recurrent and persistent infections of the skin, nails, and mucosal membranes with Candida species. Genetic factors play a critical role in the pathogenesis of CMC. Various disorders that impair the sensing of Candida or downstream IL-17 signaling may cause CMC. This review will highlight novel findings regarding the genetics and pathogenesis of CMC in past few years.

  • Treatment options for chronic Mucocutaneous Candidiasis.
    The Journal of infection, 2016
    Co-Authors: Frank L. Van De Veerdonk, Mihai G. Netea
    Abstract:

    Autosomal dominant chronic Mucocutaneous Candidiasis (AD-CMC) is a rare and severe primary immunodeficiency that is characterized by Mucocutaneous fungal infection, autoimmunity, cerebral aneurysms, and oropharyngeal and esophageal cancer. Recently, it was discovered that STAT1 mutations are responsible for AD-CMC. These mutations lead to the inability of STAT1 to be dephosphorylated, resulting in hyperphosphorylation, increased binding to the DNA, and gain of function (GOF) effects on STAT1 signaling. Furthermore, a characteristic feature of AD-CMC patients is deficiency in the T-helper 17 (Th17) responses, which is believed to be the immunological cause of the Mucocutaneous fungal infection. No targeted treatment other than lifelong antifungal prophylaxis exists for AD-CMC. However, the discovery of the genetic and immunological defects makes it now possible to explore new treatment strategies. This review will discuss immunomodulatory treatment options that can be explored in patients with STAT1 GOF mutations.

Catherine R. Weiler - One of the best experts on this subject based on the ideXlab platform.

  • Autoimmune Hemolytic Anemia in a Patient With Autosomal Dominant Chronic Mucocutaneous Candidiasis
    Mayo Clinic proceedings, 2000
    Co-Authors: David P. Steensma, Ayalew Tefferi, Catherine R. Weiler
    Abstract:

    Chronic Mucocutaneous Candidiasis is a heterogeneous immunodeficiency syndrome characterized by recurrent candidal infections of the skin, nails, and mucous membranes. The syndrome can be associated with autoimmune conditions, especially endocrine disorders. Typically, inheritance is autosomal recessive, and abnormal T-cellmediated immunity is thought to be the underlying deficit. We describe a 27–year-old man with chronic Mucocutaneous Candidiasis inherited in an autosomal dominant fashion, in whom both lymphocyte blastogenesis and delayedtype skin reactivity to Candida antigens were normal. No– table features of the case include autoimmune hemolytic anemia, probable hypoparathyroidism, and hypogonadal hypogonadism.

Sarah L Gaffen - One of the best experts on this subject based on the ideXlab platform.

  • Mucocutaneous Candidiasis: the IL-17 pathway and implications for targeted immunotherapy
    Arthritis Research & Therapy, 2012
    Co-Authors: Anna R Huppler, Shrinivas Bishu, Sarah L Gaffen
    Abstract:

    IL-17 and related cytokines are direct and indirect targets of selective immunosuppressive agents for the treatment of autoimmune diseases and other diseases of pathologic inflammation. Insights into the potential adverse effects of IL-17 blockade can be drawn from the experience of patients with deficiencies in the IL-17 pathway. A unifying theme of susceptibility to Mucocutaneous Candidiasis is seen in both mice and humans with a variety of genetic defects that converge on this pathway. Mucocutaneous Candidiasis is a superficial infection of mucosal, nail or skin surfaces usually caused by the fungal pathogen Candida albicans . The morbidity of the disease includes significant pain, weight loss and secondary complications, including carcinoma and aneurysms. This review describes the known human diseases associated with chronic Mucocutaneous Candidiasis (CMC) as well as the known and proposed connections to IL-17 signaling. The human diseases include defects in IL-17 signaling due to autoantibodies (AIRE deficiency), receptor mutations (IL-17 receptor mutations) or mutations in the cytokine genes ( IL17F and IL17A ). Hyper-IgE syndrome is characterized by elevated serum IgE, dermatitis and recurrent infections, including CMC due to impaired generation of IL-17-producing Th17 cells. Mutations in STAT1 , IL12B and IL12RB1 result in CMC secondary to decreased IL-17 production through different mechanisms. Dectin-1 defects and CARD9 defects result in susceptibility to C. albicans because of impaired host recognition of the pathogen and subsequent impaired generation of IL-17-producing T cells. Thus, recent discoveries of genetic predisposition to CMC have driven the recognition of the role of IL-17 in protection from mucosal fungal infection and should guide counseling and management of patients treated with pharmacologic IL-17 blockade.