نتایج جستجو برای: chronic mucocutaneous candidiasis

تعداد نتایج: 507607  

Journal: :Journal of medical genetics 2002
D Zuccarello D C Salpietro S Gangemi V Toscano M V Merlino S Briuglia G Bisignano M Mangino R Mingarelli B Dallapiccola

Chronic mucocutaneous candidiasis (CMC) includes a group of rare disorders with altered immune responses, selective against Candida, characterised by persistent and/or recurrent infections of the skin, nails, and mucous membranes, caused by organisms of the genus Candida, mainly Candida albicans. Familial occurrence of CMC was originally reported by Wells et al, who described both males and fem...

2016
Jitong Sun Kunwei Niu Haiying Fu Haijun Li Yi Li Wei Yang

Autoimmune regulator (Aire) mutations result in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), which manifests as multi-organ autoimmunity and chronic mucocutaneous candidiasis (CMC). Indendritic cells (DCs), pattern recognition receptors (PRR), such as Toll-like receptors (TLRs), are closely involved in the recognition of various pathogens, activating the intercellula...

Journal: :Allergologia et immunopathologia 2021

Chronic mucocutaneous candidiasis (CMC) is characterized by a chronic or recurrent non invasive infection, mainly due to Candida albicans , in skin, nails, and mucous membranes, associated some cases with autoimmune manifestations. The key immune defect disruption of the action cytokine IL-17, whose most common genetic etiology STAT1 gene gain-of function (GOF) mutations. initial appropriate tr...

2015
Yun Ling Sophie Cypowyj Caner Aytekin Miguel Galicchio Yildiz Camcioglu Serdar Nepesov Aydan Ikinciogullari Figen Dogu Aziz Belkadi Romain Levy Mélanie Migaud Bertrand Boisson Alexandre Bolze Yuval Itan Nicolas Goudin Julien Cottineau Capucine Picard Laurent Abel Jacinta Bustamante Jean-Laurent Casanova Anne Puel

Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent infections of the skin, nail, oral, and genital mucosae with Candida species, mainly C. albicans. Autosomal-recessive (AR) IL-17RA and ACT1 deficiencies and autosomal-dominant IL-17F deficiency, each reported in a single kindred, underlie CMC in otherwise healthy patients. We report three patients from unrelated...

Journal: :Annals of the Academy of Medicine, Singapore 2005
H L Ee H H Tan S K Ng

INTRODUCTION Autosomal dominant chronic mucocutaneous candidiasis (CMC) without endocrinopathy (OMIM 114580) is a well-described entity. The associations recorded with this disorder to date are intercellular adhesion molecule-1 (ICAM-1) deficiency and hyper-immunoglobulin E syndrome. CLINICAL PICTURE We report a new association in a family (mother and nonidentical twin sons) where acne rosace...

Journal: :The Journal of allergy and clinical immunology 2011
Suheir Hanna Amos Etzioni

Chronic Candida species infection of the skin and mucosal membranes is viewed as a group of disorders all sharing a similar clinical condition, the susceptibility to localized fungal infections, which can be isolated or as a feature associated with various other entities. Although the pathogenesis underlying such a tendency had previously been poorly understood, the last decade has witnessed si...

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