Cutaneous squamous cell carcinoma, thyroid cancer and Langerhans cell histiocytosis in a patient with X-linked recessive Mendelian susceptibility to mycobacterial diseases with a nuclear factor-κB essential modifier mutation
| Autor: | Mayuko Iijima, Hirokazu Arakawa, Ayumi Takahashi, Mariko Suto, Yuta Inoue, Osamu Ishikawa, Chikako Kishi, Akira Shimizu, Masahito Yasuda |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine congenital hereditary and neonatal diseases and abnormalities Skin Neoplasms Adolescent Carcinogenesis Mycobacterium Infections Nontuberculous Dermatology IκB kinase medicine.disease_cause Pneumococcal Infections 03 medical and health sciences Langerhans cell histiocytosis IKBKG medicine Humans Thyroid Neoplasms skin and connective tissue diseases Thyroid cancer Immunodeficiency X-linked recessive inheritance business.industry Immunologic Deficiency Syndromes Genetic Diseases X-Linked General Medicine Incontinentia pigmenti medicine.disease Lip I-kappa B Kinase Histiocytosis Langerhans-Cell 030104 developmental biology Mutation Carcinoma Squamous Cell Cancer research business |
| Zdroj: | The Journal of Dermatology. 45:1017-1019 |
| ISSN: | 0385-2407 |
| Popis: | Nuclear factor (NF)-κB essential modifier (NEMO), also known as IκB kinase subunit-γ (IKKγ), is a pivotal molecule in the NF-κB signaling pathway. Mutations of NEMO cause incontinentia pigmenti and X-linked ectodermal dysplasia with immunodeficiency. Mendelian susceptibility to mycobacterial diseases (MSMD), which confers an almost selective predisposition to mycobacterial infection, is also caused by NEMO mutations. We herein report the first case of a patient with X-linked recessive (XR) MSMD who developed cutaneous squamous cell carcinoma, thyroid cancer and Langerhans cell histiocytosis. The relationship between NEMO mutation and oncogenesis is discussed. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text