Stephan, J.L., Vlekova, V., Le Deist, F., Blanche, S., Donadieu, J., De Saint-Basile, G., Durandy, A., Griscelli, C., and Fischer, A.: Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. J. Pediatr. 1993, 123:564–572.
13-4 SCID can also be due to defects in the purine salvage pathway.
Hirschhorn, R.: Adenosine deaminase deficiency: molecular basis and recent developments. Clin. Immunol. Immunopathol. 1995, 76:S219–S227.
13-5 Defects in antigen receptor gene rearrangement can result in SCID.
Bosma, M.J., and Carroll, A.M.: The SCID mouse mutant: definition, characterization, and potential uses. Annu. Rev. Immunol. 1991, 9:323–350.
Fugmann, S.D.: DNA repair: breaking the seal. Nature 2002, 416:691–694.
Gennery, A.R., Cant, A.J., and Jeggo, P.A.: Immunodeficiency associated with DNA repair defects. Clin. Exp. Immunol. 2000, 121:1–7.
Moshous, D., Callebaut, I., de Chasseval, R., Corneo, B., Cavazzana-Calvo, M., Le Deist, F., Tezcan, I., Sanal, O., Bertrand, Y., Philippe, N., et al.: Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 2001, 105:177–186.
13-6 Defects in signaling from T-cell antigen receptors can cause severe immunodeficiency.
Castigli, E., Pahwa, R., Good, R.A., Geha, R.S., and Chatila, T.A.: Molecular basis of a multiple lymphokine deficiency in a patient with severe combined immunodeficiency. Proc. Natl Acad. Sci. USA 1993, 90:4728–4732.
Kung, C., Pingel, J.T., Heikinheimo, M., Klemola, T., Varkila, K., Yoo, L.I., Vuopala, K., Poyhonen, M., Uhari, M., Rogers, M., et al.: Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease. Nat. Med. 2000, 6:343–345.
Roifman, C.M., Zhang, J., Chitayat, D., and Sharfe, N.: A partial deficiency of interleukin-7R α is sufficient to abrogate T-cell development and cause severe combined immunodeficiency. Blood 2000, 96:2803–2807.
13-7 Genetic defects in thymic function that block T-cell development result in severe immunodeficiencies.
Coffer, P.J., and Burgering, B.M.: Forkhead-box transcription factors and their role in the immune system. Nat. Rev. Immunol. 2004, 4:889–899.
DiSanto, J.P., Keever, C.A., Small,T.N., Nicols, G.L., O’Reilly, R.J., and Flomenberg, N.: Absence of interleukin 2 production in a severe combined immunodeficiency disease syndrome with T cells. J. Exp. Med. 1990, 171:1697–1704.