Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-gamma receptor-1 deficiency

Karaca N. , BOISSON-DUPUIS S., AKSU G. , BUSTAMANTE J., kandiloğlu G., ÖZSAN N. , ...More

IMMUNOTHERAPY, vol.4, no.11, pp.1121-1127, 2012 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 4 Issue: 11
  • Publication Date: 2012
  • Doi Number: 10.2217/imt.12.111
  • Title of Journal : IMMUNOTHERAPY
  • Page Numbers: pp.1121-1127


Interferon-gamma receptor-1 (IFN gamma R1) deficiency is caused by mutations in the IFN gamma R1 gene and is characterized mainly by susceptibility to mycobacterial disease. Herein, we report an 8-month-old boy with complete recessive IFN gamma R1 deficiency, afflicted by recurrent mycobacterial diseases with Mycobacterium bovis, Mycobacterium tuberculosis, Mycobacterium avium intracellulare and Mycobacterium fortuitum. Genetic analysis showed a homozygous mutation (106insT) in the IFN gamma R1 gene leading to complete IFN gamma R1 deficiency. In addition, he had atypical mycobacterial skin lesions caused by M. avium intracellulare and developed scrotal and lower limb lymphedema secondary to compression of large and fixed inguinal lymphadenopathies. Hematopoietic stem cell transplantation was performed from a matched unrelated donor at 5 years of age; however, he died at 9 months post-transplant. To our knowledge, the patient is the first case with IL-12/IFN-gamma pathway defect and severe lymphedema. We have also reviewed and summarized the literature related with IFN gamma R1 deficiency.