South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin

FLG mutations lead to reduced levels of filaggrin degradation products in the SC in a dose-dependent fashion.5 It has been shown that moderate-to-severe AD also has an effect on SC filaggrin expression6 as well as on the levels of filaggrin degradation products5 possibly due to the systemic TH2 immu...

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Vydané v:	Journal of allergy and clinical immunology Ročník 133; číslo 1; s. 280 - 282.e2
Hlavní autori:	Thawer-Esmail, Fatemah, Jakasa, Ivone, Todd, Gail, Wen, Yaran, Brown, Sara J., Kroboth, Karin, Campbell, Linda E., O'Regan, Grainne M., McLean, W.H. Irwin, Irvine, Alan D., Kezic, Sanja, Sandilands, Aileen
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	New York, NY Elsevier Inc 01.01.2014 Elsevier Elsevier Limited Mosby
Predmet:	Adolescent Adult Allergic diseases Allergy and Immunology Alzheimer's disease Biological and medical sciences Carboxylic Acids - chemistry Carboxylic Acids - metabolism Child Child, Preschool Dementia Dermatitis, Atopic - epidemiology Dermatitis, Atopic - genetics DNA Mutational Analysis Epidermis - metabolism Female Filaggrin Proteins Fundamental and applied biological sciences. Psychology Fundamental immunology Genetic Association Studies Genetic Predisposition to Disease Humans Immunopathology Infant Intermediate Filament Proteins - chemistry Intermediate Filament Proteins - genetics Letter to the Editor Male Medical sciences Mutation Mutation, Missense - genetics Older people Polymorphism, Genetic Proteolysis Pyrrolidinones - chemistry Pyrrolidinones - metabolism Risk Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis Skin allergic diseases. Stinging insect allergies South Africa Urocanic Acid - chemistry Urocanic Acid - metabolism Young Adult South Africa Africa United Kingdom > UK Human Allergy Immunopathology Skin disease Immunology Atopic dermatitis Genetics Filaggrin Mutation Atopy
ISSN:	0091-6749, 1097-6825, 1097-6825
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Shrnutí:	FLG mutations lead to reduced levels of filaggrin degradation products in the SC in a dose-dependent fashion.5 It has been shown that moderate-to-severe AD also has an effect on SC filaggrin expression6 as well as on the levels of filaggrin degradation products5 possibly due to the systemic TH2 immune response.6 In the present study, the levels of both PCA and UCA and their sum were significantly decreased in the SC of patients with AD than in control subjects (Fig 1; see Table E1 in this article's Online Repository at www.jacionline.org). [...]FLG LOF mutations are not a significant contributor to AD in the amaXhosa population.
Bibliografia:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Article-2 ObjectType-Correspondence-1 content type line 23
ISSN:	0091-6749 1097-6825 1097-6825
DOI:	10.1016/j.jaci.2013.09.053