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: Tomoko Konishi, Tatsuya Tsuda, Yoshiko Sakaguchi, Yasutomo Imai, Takashi Ito, Seiichi Hirota, Kiyofumi Yamanishi
• Journal: The Journal of dermatology (J Dermatol) Vol. 41 Issue 3 Pg. 258-61 (Mar 2014) ISSN: 1346-8138 [Electronic] England
• PMID: 24506793 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2014 Japanese Dermatological Association.

Chemical References

• IL33 protein, human
• Interleukin-33
• Interleukins
• Proteinase Inhibitory Proteins, Secretory
• SPINK5 protein, human
• Serine Peptidase Inhibitor Kazal-Type 5

Topics

• Epidermis (metabolism, pathology)
• Female
• Humans
• Infant, Newborn
• Infant, Premature
• Interleukin-33
• Interleukins (metabolism)
• Netherton Syndrome (genetics, metabolism, pathology)
• Proteinase Inhibitory Proteins, Secretory (genetics)
• Serine Peptidase Inhibitor Kazal-Type 5
• Up-Regulation