نتایج جستجو برای: chronic mucocutaneous candidiasis

تعداد نتایج: 507607  

2010
Mohammed Al-Owain Namik Kaya Hamad Al-Zaidan Ibrahim Bin Hussain Hadeel Al-Manea Hindi Al-Hindi Shelley Kennedy M. Anwar Iqbal Hamad Al-Mojalli Albandary Al-Bakheet Anne Puel Jean-Laurent Casanova Saleh Al-Muhsen

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE). Terminal 4q deletion is also a rare cytogenetic abnormality that causes a variable syndrome of dysmorphic features, mental retardation, growth retardation, and heart and limb defects. We report a 12-year-old Saudi boy with mu...

2012
Donatella Capalbo Lucia De Martino Giuliana Giardino Raffaella Di Mase Iolanda Di Donato Giancarlo Parenti Pietro Vajro Claudio Pignata Mariacarolina Salerno

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare autosomal recessive disease, caused by mutations of a single gene named autoimmune regulator gene (AIRE) which results in a failure of T cell tolerance within the thymus. Chronic mucocutaneous candidiasis, chronic hypoparathyroidism, and Addison's disease are the hallmarks of the syndrome. APECED is also character...

Journal: :Infection and immunity 1990
M W Ollert E Wadsworth R A Calderone

Pseudohyphae of Candida albicans bear surface receptors for iC3b and C3d. In order to determine a possible role for these receptors in the pathogenesis of candidiasis, a spontaneous C. albicans mutant, m-10, which exhibits reduced ability to adhere in vitro to fibrin platelet clots and epithelial cells or to cause endocarditis in a rabbit model, and its parent wild-type (wt) strain were compare...

2012
Nicolas Kluger Annamari Ranki Kai Krohn

In APECED, the key abnormality is in the T cell defect that may lead to tissue destruction chiefly in endocrine organs. Besides, APECED is characterized by high-titer antibodies against a wide variety of cytokines that could partly be responsible for the clinical symptoms during APECED, mainly chronic mucocutaneous candidiasis, and linked to antibodies against Th17 cells effector molecules, IL-...

Journal: :Journal of immunology 2014
Yasuhiro Yamazaki Masafumi Yamada Toshinao Kawai Tomohiro Morio Masafumi Onodera Masahiro Ueki Nobuyuki Watanabe Hidetoshi Takada Shunichiro Takezaki Natsuko Chida Ichiro Kobayashi Tadashi Ariga

Heterozygous gain-of-function (GOF) mutations of STAT1 are responsible for chronic mucocutaneous candidiasis disease (CMCD), one of the primary immunodeficiency diseases characterized by susceptibility to mucocutaneous Candida infection. To date, 30 aa changes have been reported: 21 in the coiled-coil domain and 9 in the DNA-binding domain. In this study, we report two novel STAT1 GOF mutations...

Journal: :Acta dermato-venereologica 1999
J M Weinberg E K Koestenblatt P C Don S M White M N Stein M Bamji

Sir, Proximal white subungual onychomycosis (PWSO) is the rarest subtype of onychomycosis (1). In PWSO, the infection begins with fungal invasion of the stratum corneum of the proximal nail fold, followed by infection of the deeper portions of the nail plate. This presentation of onychomycosis is most commonly caused by T. rubrum; other common causative agents include T. megninii, T. schoenlein...

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