| 1 | NAO, EDS7C, HSCR5, HYP1, MADYS2, PYCD, PALS, ALPS2, LGMD2A, CASP8D, CYLD |
| The genetic and molecular bases of monogenic disorders affecting proteolytic systems. | |
| Richard I. | |
| J Med Genet 42(7):529-39. 2005 | |
| 2 | CASP8, CASP8D |
| Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. | |
| Chun HJ, Zheng L, Ahmad M, Wang J, Speirs CK, Siegel RM, Dale JK, Puck J, Davis J, Hall CG, Skoda-Smith S, Atkinson TP, Straus SE, Lenardo MJ. | |
| Nature 419(6905):395-9. 2002 | |