Mechanisms of abnormal lamellar body secretion and the dysfunctional skin barrier in patients with atopic dermatitis
PM Elias, JS Wakefield - Journal of allergy and clinical immunology, 2014 - Elsevier
I review how diverse inherited and acquired abnormalities in epidermal structural and
enzymatic proteins converge to produce defective permeability barrier function and
antimicrobial defense in patients with atopic dermatitis (AD). Although best known are
mutations in filaggrin (FLG), mutations in other member of the fused S-100 family of proteins
(ie, hornerin [hrn] and filaggrin 2 [flg-2]); the cornified envelope precursor (ie, SPRR3);
mattrin, which is encoded by TMEM79 and regulates the assembly of lamellar bodies; …
enzymatic proteins converge to produce defective permeability barrier function and
antimicrobial defense in patients with atopic dermatitis (AD). Although best known are
mutations in filaggrin (FLG), mutations in other member of the fused S-100 family of proteins
(ie, hornerin [hrn] and filaggrin 2 [flg-2]); the cornified envelope precursor (ie, SPRR3);
mattrin, which is encoded by TMEM79 and regulates the assembly of lamellar bodies; …