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 |
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Authors: | Yuta Inoue Akira Shimizu Mariko Suto Chikako Kishi Ayumi Takahashi Masahito Yasuda Mayuko Iijima Hirokazu Arakawa Osamu Ishikawa |
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Affiliation: | 1. Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Japan;2. Department of Pediatrics, Gunma University Graduate School of Medicine, Maebashi, Japan |
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Abstract: | 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. |
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Keywords: | mutation NEMO gene nuclear factor‐κ B squamous cell carcinoma X‐linked recessive Mendelian susceptibility to mycobacterial diseases |
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