RT Journal Article
SR Electronic
T1 Multiple cutaneous squamous cell carcinomas in a patient with interferon γ receptor 2 (IFNγR2) deficiency
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 631
OP 634
DO 10.1136/jmg.2009.072108
VO 47
IS 9
A1 Toyoda, Hidemi
A1 Ido, Masaru
A1 Nakanishi, Kyoichi
A1 Nakano, Takashi
A1 Kamiya, Hitoshi
A1 Matsumine, Akihiko
A1 Uchida, Atsumasa
A1 Mizutani, Hitoshi
A1 de Beaucoudrey, Ludovic
A1 Vogt, Guillaume
A1 Boisson-Dupuis, Stéphanie
A1 Bustamante, Jacinta
A1 Casanova, Jean-Laurent
A1 Komada, Yoshihiro
YR 2010
UL http://jmg.bmj.com/content/47/9/631.abstract
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.