Article
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.
Human molecular genetics - 15 Feb 2013
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
Abstract excerpt
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, however, similar to those from MSMD patients with autosomal recessive (AR) partial IFN-γR2 or STAT1 deficiency....
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