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

Interferon-γ receptor-1 (IFNγR1) deficiency is caused by mutations in the IFNγR1 gene and is characterized mainly by susceptibility to mycobacterial disease. Herein, we report an 8-month-old boy with complete recessive IFNγR1 deficiency, afflicted by recurrent mycobacterial diseases with Mycobacteri...

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Detalhes bibliográficos
Main Authors: Karaca, Neslihan Edeer, Boisson-Dupuis, Stephanie, Aksu, Güzide, Bustamante, Jacinta, Kandiloglu, Gulsen, Ozsan, Nazan, Hekimgil, Mine, Casanova, Jean-Laurent, Kutukculer, Necil
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3727650/
https://ncbi.nlm.nih.gov/pubmed/23194362
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2217/imt.12.111
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