PT  - JOURNAL ARTICLE
AU  - Hidemi Toyoda
AU  - Masaru Ido
AU  - Kyoichi Nakanishi
AU  - Takashi Nakano
AU  - Hitoshi Kamiya
AU  - Akihiko Matsumine
AU  - Atsumasa Uchida
AU  - Hitoshi Mizutani
AU  - Ludovic de Beaucoudrey
AU  - Guillaume Vogt
AU  - Stéphanie Boisson-Dupuis
AU  - Jacinta Bustamante
AU  - Jean-Laurent Casanova
AU  - Yoshihiro Komada
TI  - Multiple cutaneous squamous cell carcinomas in a patient with interferon γ receptor 2 (IFNγR2) deficiency
AID  - 10.1136/jmg.2009.072108
DP  - 2010 Sep 01
TA  - Journal of Medical Genetics
PG  - 631--634
VI  - 47
IP  - 9
4099  - http://jmg.bmj.com/content/47/9/631.short
4100  - http://jmg.bmj.com/content/47/9/631.full
SO  - J Med Genet2010 Sep 01; 47
AB  - 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.