Upregulation of interleukin-33 in the epidermis of two Japanese patients with Netherton syndrome
| Autor: | Yasutomo Imai, Takashi Ito, Yoshiko Sakaguchi, Kiyofumi Yamanishi, Tatsuya Tsuda, Seiichi Hirota, Tomoko Konishi |
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| Rok vydání: | 2014 |
| Předmět: |
Pathology
medicine.medical_specialty Proteinase Inhibitory Proteins Secretory Erythroderma Dermatology Desquamation Basal (phylogenetics) Downregulation and upregulation medicine Humans Netherton syndrome Epidermis (botany) business.industry Interleukins Infant Newborn General Medicine Atopic dermatitis Interleukin-33 medicine.disease Up-Regulation LEKTI Netherton Syndrome Serine Peptidase Inhibitor Kazal-Type 5 Female Epidermis medicine.symptom business Infant Premature |
| Zdroj: | The Journal of Dermatology. 41:258-261 |
| ISSN: | 0385-2407 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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