Lanternier, F., Pathan, S., Vincent, Q.B., Liu, L., Cypowyj, S., Prando, C., Migaud, M., Taibi, L., Ammar-Khodja, A., Boudghene Stambouli, O., et al.: Deep dermatophytosis and inherited CARD9 deficiency. N. Engl. J. Med. 2013, 369:1704–1714.
Newport, M.J., Huxley, C.M., Huston, S., Hawrylowicz, C.M., Oostra, B.A., Williamson, R., and Levin, M.: A mutation in the interferon-γ-receptor gene and susceptibility to mycobacterial infection. N. Engl. J. Med. 1996, 335:1941–1949.
Puel, A., Döffinger, R., Natividad, A., Chrabieh, M., Barcenas-Morales, G., Picard, C., Cobat,A., Ouachée-Chardin, M.,Toulon,A., Bustamante, J., et al.: Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J. Exp. Med. 2010, 207:291–297.
Van de Vosse, E., Hoeve, M.A., and Ottenhoff, T.H.: Human genetics of intracellular infectious diseases: molecular and cellular immunity against mycobacteria and salmonellae. Lancet Infect. Dis. 2004, 4:739–749.
13-11 Inherited defects in the cytolytic pathway of lymphocytes can cause uncontrolled lymphoproliferation and inflammatory responses to viral infections.
de Saint Basile, G., Ménasché, G., and Fischer, A.: Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules. Nat. Rev. Immunol. 2010, 10:568–579.
de Saint Basille, G., and Fischer, A.: The role of cytotoxicity in lymphocyte homeostasis. Curr. Opin. Immunol. 2001, 13:549–554.
13-12 X-linked lymphoproliferative syndrome is associated with fatal infection by Epstein–Barr virus and with the development of lymphomas.
Latour, S., Gish, G., Helgason, C.D., Humphries, R.K., Pawson, T., and Veillette, A.: Regulation of SLAM-mediated signal transduction by SAP, the X-linked lymphoproliferative gene product. Nat. Immunol. 2001, 2:681–690.
Morra, M., Howie, D., Grande, M.S., Sayos, J., Wang, N., Wu, C., Engel, P., and Terhorst, C.: X-linked lymphoproliferative disease: a progressive immunodeficiency. Annu. Rev. Immunol. 2001, 19:657–682.
Rigaud, S., Fondaneche, M.C., Lambert, N., Pasquier, B., Mateo, V., Soulas, P., Galicier, L., Le Deist, F., Rieux-Laucat, F., Revy, P., et al.: XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature 2006, 444:110–114.
13-13 Immunodeficiency is caused by inherited defects in the development of dendritic cells.