| 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 | CASP10, ALPS2 |
| Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. | |
| Wang J, et al. | |
| Cell 98(1):47-58. 1999 | |
| 3 | ALPS2, CASP10 |
| Deficiency of the Fas apoptosis pathway without Fas gene mutations in pediatric patients with autoimmunity/lymphoproliferation. | |
| Dianzani U, Bragardo M, DiFranco D, Alliaudi C, Scagni P, Buonfiglio D, Redoglia V, Bonissoni S, Correra A, Dianzani I, Ramenghi U. | |
| Blood 89(8):2871-9 1997 | |