|
1）Santagata S, Villa A, Sobacchi C, et al. The genetic and biochemical basis of Omenn syndrome. Immunol Rev. 2000; 178: 64-74
|
|
|
|
2）Honig M, Schwarz K. Omenn syndrome: a lack of tolerance on the background of deficient lymphocyte development and maturation. Curr Opin Rheumatol. 2006; 18: 383-8
|
|
|
|
|
|
3）Aleman K, Noordzij JG, de Groot R, et al. Reviewing Omenn syndrome. Eur J Pediatr. 2001; 160: 718-25
|
|
|
|
|
|
4）Roifman CM, Gu Y, Cohen A. Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome. J Allergy Clin Immunol. 2006; 117: 897-903
|
|
|
|
|
|
5）Sobacchi C, Marrella V, Rucci F, et al. RAG-dependent primary immunodeficiencies. Hum Mutat. 2006; 27: 1174-84
|
|
|
|
|
|
6）Mombaerts P, et al. RAG-1-deficient mice have no mature B and T lymphocytes. Cell. 1992; 68: 869-77
|
|
|
|
|
|
7）Shinkai Y, et al. RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement. Cell. 1992; 68: 855-67
|
|
|
|
|
|
8）Cavadini P, et al. AIRE deficiency in thymus of 2 patients with Omenn syndrome. J Clin Invest. 2005; 115: 728-32
|
|
|
|
|
|
9）Khiong K, et al. Homeostatically proliferating CD4＋T cells are involved in the pathogenesis of an Omenn syndrome murine model. J Clin Invest. 2007; 117: 1270-81
|
|
|
|
|
|
10）Marrella V, et al. A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome. J Clin Invest. 2007; 117: 1260-9
|
|
|
|
|
|
11）Villa A, et al. V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. Blood. 2001; 97: 81-8
|
|
|
|
|
|
12）King C, Ilic A, Koelsch K, et al. Homeostatic expansion of T cells during immune insufficiency generates autoimmunity. Cell. 2004; 117: 265-77
|
|
|
|
|
|
13）Sawa S, et al. Autoimmune arthritis associated with mutated interleukin (IL)-6 receptor gp130 is driven by STAT3/IL-7-dependent homeostatic proliferation of CD4＋T cells. J Exp Med. 2006; 203: 1459-70
|
|
|
|
|
|
14）Foy TM, et al. Immune regulation by CD40 and its ligand gp39. Annu Rev Immunol. 1996; 14: 591-617
|
|
|
|
|