Anderson, M.S., Venanzi, E.S., Chen, Z., Berzins, S.P., Benoist, C., and Mathis, D.: The cellular mechanism of Aire control of T cell tolerance. Immunity 2005, 23:227–239.
Bacchetta, R., Passerini, L., Gambineri, E., Dai, M., Allan, S.E., Perroni, L., Dagna-Bricarelli, F., Sartirana, C., Matthes-Martin, S., Lawitschka, A., et al.: Defective regulatory and effector T cell functions in patients with FOXP3 mutations. J. Clin. Invest. 2006, 116:1713–1722.
Ueda, H., Howson, J.M., Esposito, L., Heward, J., Snook, H., Chamberlain, G., Rainbow, D.B., Hunter, K.M., Smith, A.N., DiGenova, G., et al.: Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 2003, 423:506–511.
Wildin, R.S., Ramsdell, F., Peake, J., Faravelli, F., Casanova, J.L., Buist, N., Levy-Lahad, E., Mazzella, M., Goulet, O., Perroni, L., et al.: X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat. Genet. 2001, 27:18–20.
15-22 MHC genes have an important role in controlling susceptibility to autoimmune disease.
Fernando, M.M.A., Stevens, C.R., Walsh, E.C., De Jager, P.L., Goyette, P., Plenge, R.M., Vyse, T.J., and Rioux, J.D.: Defining the role of the MHC in autoimmunity: a review and pooled analysis. PLoS Genet. 2008, 4:e1000024.
McDevitt, H.O.: Discovering the role of the major histocompatibility complex in the immune response. Annu. Rev. Immunol. 2000, 18:1–17.
15-23 Genetic variants that impair innate immune responses can predispose to T cell-mediated chronic inflammatory disease.
Cadwell, K., Liu, J.Y., Brown, S.L., Miyoshi, H., Loh, J., Lennerz, J.K., Kishi, C., Kc, W., Carrero, J.A., Hunt, S., et al.: A key role for autophagy and the autophagy gene Atg16l1 in mouse and human intestinal Paneth cells. Nature 2008, 456:259–263.
Eckmann, L., and Karin, M.: NOD2 and Crohn’s disease: loss or gain of function? Immunity 2005, 22:661–667.
Xavier, R.J., and Podolsky, D.K.: Unravelling the pathogenesis of inflammatory bowel disease. Nature 2007, 448:427–434.
15-24 External events can initiate autoimmunity.
Klareskog, L., Padyukov, L., Ronnelid, J., and Alfredsson, L.: Genes, environment and immunity in the development of rheumatoid arthritis. Curr. Opin. Immunol. 2006 18:650–655.