Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare syndrome, the known genetic etiologies of which impair the production of, or the response to interferon-gamma (IFN-γ). We report here a patient (P1) with MSMD whose cells display mildly impaired responses to IFN-γ, at levels, howeve...

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Main Authors: Kong, Xiao-Fei, Vogt, Guillaume, Itan, Yuval, Macura-Biegun, Anna, Szaflarska, Anna, Kowalczyk, Danuta, Chapgier, Ariane, Abhyankar, Avinash, Furthner, Dieter, Djambas Khayat, Claudia, Okada, Satoshi, Bryant, Vanessa L., Bogunovic, Dusan, Kreins, Alexandra, Moncada-Vélez, Marcela, Migaud, Mélanie, Al-Ajaji, Sulaiman, Al-Muhsen, Saleh, Holland, Steven M., Abel, Laurent, Picard, Capucine, Chaussabel, Damien, Bustamante, Jacinta, Casanova, Jean-Laurent, Boisson-Dupuis, Stéphanie
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2013
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3554203/
https://ncbi.nlm.nih.gov/pubmed/23161749
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds484
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