title: Upregulation of interleukin-33 in the epidermis of two Japanese patients with Netherton syndrome.
abstract: Netherton syndrome (NS) is a rare autosomal recessive disorder which is caused by mutations in the SPINK5 gene encoding the serine-protease inhibitor LEKTI. Characteristic symptoms of NS include erythroderma with diffuse desquamation, hair abnormalities and atopic manifestations. Here, we report two Japanese patients with NS, one of whom had a novel mutation in the SPINK5 gene which leads to p.C367Lfs*3. The upregulation of interleukin-33 (IL-33) was evident in basal and thickened lower spinous layers of the epidermis in those cases. This suggests that IL-33 may be involved in the pathophysiology of NS as well as in atopic dermatitis.
authors: Department of Dermatology, Hyogo College of Medicine, Nishinomiya, Japan.
authors: Tomoko
authors: T
authors: Konishi
authors: Tatsuya
authors: T
authors: Tsuda
authors: Yoshiko
authors: Y
authors: Sakaguchi
authors: Yasutomo
authors: Y
authors: Imai
authors: Takashi
authors: T
authors: Ito
authors: Seiichi
authors: S
authors: Hirota
authors: Kiyofumi
authors: K
authors: Yamanishi
mesh_terms: D004817:Epidermis / Q000378:metabolism* / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D000067596:Interleukin-33; D007378:Interleukins / Q000378:metabolism*; D056770:Netherton Syndrome / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D053491:Proteinase Inhibitory Proteins, Secretory / Q000235:genetics; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D015854:Up-Regulation
chemical_list: C506536:IL33 protein, human; D000067596:Interleukin-33; D007378:Interleukins; D053491:Proteinase Inhibitory Proteins, Secretory; C120650:SPINK5 protein, human; D000074163:Serine Peptidase Inhibitor Kazal-Type 5
keywords: Netherton syndrome; SPINK5; atopic dermatitis; interleukin-33; mutation