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Multiple cutaneous squamous cell carcinomas in a patient with interferon γ receptor 2 (IFNγR2) deficiency
  1. Hidemi Toyoda1,2,
  2. Masaru Ido1,2,
  3. Kyoichi Nakanishi1,2,
  4. Takashi Nakano3,
  5. Hitoshi Kamiya3,
  6. Akihiko Matsumine4,
  7. Atsumasa Uchida4,
  8. Hitoshi Mizutani5,
  9. Ludovic de Beaucoudrey6,
  10. Guillaume Vogt6,
  11. Stéphanie Boisson-Dupuis6,7,
  12. Jacinta Bustamante6,
  13. Jean-Laurent Casanova6,7,
  14. Yoshihiro Komada2
  1. 1Department of Pediatrics, Mie Central Medical Center, Tsu, Mie, Japan
  2. 2Department of Pediatrics, Mie University, Tsu, Mie, Japan
  3. 3Department of Pediatrics, Mie Hospital, Tsu, Mie, Japan
  4. 4Department of Orthopedics, Mie University, Tsu, Mie, Japan
  5. 5Department of Dermatology, Mie University, Tsu, Mie, Japan
  6. 6Laboratory of Human Genetics of Infectious Disease, Necker Branch, University Paris Descartes-INSERM U 550, Necker Medical School, Paris, France, EU
  7. 7Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA
  1. Correspondence to Dr Hidemi Toyoda, Department of Pediatrics, Mie University, 2-174 Edobashi, Tsu 514-8507, Japan; htoyoda{at}


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.

  • Immunology (including allergy)
  • infectious disease
  • oncology

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  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval This study was conducted with the approval of the Mie University.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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