Multiple cutaneous squamous cell carcinomas in a patient with interferon receptor 2 (IFN R2) deficiency
| Autor: | Takashi Nakano, Guillaume Vogt, Hidemi Toyoda, Ludovic de Beaucoudrey, Atsumasa Uchida, Akihiko Matsumine, Yoshihiro Komada, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis, Hitoshi Mizutani, Jacinta Bustamante, Kyoichi Nakanishi, Hitoshi Kamiya, Masaru Ido |
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| Rok vydání: | 2010 |
| Předmět: |
medicine.medical_specialty
biology business.industry medicine.medical_treatment Mycobacterium Avium Infection Immunosuppression Epidermodysplasia verruciformis medicine.disease biology.organism_classification Organ transplantation stomatognathic diseases Epidermoid carcinoma Immunology Genetics Primary immunodeficiency Medicine Mycobacterium fortuitum business Genetics (clinical) Immunodeficiency |
| Zdroj: | Journal of Medical Genetics. 47:631-634 |
| ISSN: | 1468-6244 0022-2593 |
| Popis: | Disseminated squamous cell carcinoma (SCC) of the skin is exceedingly rare in children. SCC occurs after immunodeficiency from immunosuppression in organ transplant recipients or patients with HIV infection or leukaemia, but has not been reported in primary immunodeficiencies other than epidermodysplasia verruciformis. Interferon γ receptor 2 (IFNγR2) deficiency is an exceedingly rare primary immunodeficiency, conferring almost selective predisposition to mycobacterial diseases. A disseminated, cutaneous SCC is described that occurred in a patient homozygous for a novel frameshift deletion at positions 949 and 950 (949delTG) in the IFNGR2 gene. The patient first presented at 1 year of age with disseminated Mycobacterium avium infection, with later infections of atypical mycobacteria ( Mycobacterium fortuitum and Mycobacterium porcium ). At 17 years of age, the patient developed multifocal SCC lesions on the face and both hands. Histopathological examination revealed well differentiated SCC. Despite local tumour excision, multiple lesions occurred and a large SCC on the right arm required amputation. The patient died at 20 years of age of disseminated SCC. Inherited disorders of IFNγ mediated immunity may predispose patients to SCC. |
| Databáze: | OpenAIRE |
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