Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-gamma receptor-1 deficiency
Küçük Resim Yok
Tarih
2012
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Future Medicine Ltd
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
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.
Açıklama
Anahtar Kelimeler
atypical mycobacteria, IL-12/IFN-gamma pathway, lymphedema
Kaynak
Immunotherapy
WoS Q Değeri
Q3
Scopus Q Değeri
Cilt
4
Sayı
11
