Citations for
1IFNGR2, IFNGR2D
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.
Kong XF, Vogt G, Itan Y, Macura-Biegun A, Szaflarska A, Kowalczyk D, Chapgier A, Abhyankar A, Furthner D, Djambas Khayat C, Okada S, Bryant VL, Bogunovic D, Kreins A, Moncada-Vélez M, Migaud M, Al-Ajaji S, Al-Muhsen S, Holland SM, Abel L, Picard C, Chaussabel D, Bustamante J, Casanova JL, Boisson-Dupuis S.
Hum Mol Genet 22(4):769-81. doi: 10.1093/hmg/dds484. Epub 2012 Nov 16. 2013
2IFNGR2, IFNGR2D
Multiple cutaneous squamous cell carcinomas in a patient with interferon gamma receptor 2 (IFN gamma R2) deficiency.
Toyoda H, Ido M, Nakanishi K, Nakano T, Kamiya H, Matsumine A, Uchida A, Mizutani H, de Beaucoudrey L, Vogt G, Boisson-Dupuis S, Bustamante J, Casanova JL, Komada Y.
J Med Genet 47(9):631-4. Epub 2010 Jun 28.PMID: 2058741 2010
3IFNGR1, IFNGR1D, IFNGR2, IFNGR2D, IL12B40, IL12RB1, IL12RB1D, NEMO, STAT1
The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases.
Al-Muhsen S, Casanova JL.
J Allergy Clin Immunol 122(6):1043-51; quiz 1052-3. Review. 2008