| Mutation type*1 | Mutation position | Length of affected nucleotides | Nucleotide sequence after mutation | Mutation name | Case # | Consequence | Disease | Onset Age | Gender | Lymphoproliferation | Autoimmunity | Excess CD4-/CD8-Tcells | Apoptosis Impairment/Ab:Fas | Reference | Compound Heterozygote |
| N | 219 | 1 | A | C57X | 1 | TGC-TGA at ntd 219 -> Cys-Stop at codon 57 | Autoimmune lymphoproliferative syndrome | 3y | Female | lymphadenopathy, hepatosplenomegaly | Guillain-Barre syndrome | CD3+CD4-8-TCRa/b+=15 | 21 | Sneller,M.C. et al. Blood 89,1341(1997) | - |
| M | 244 | 1 | C | C66R | 1 | TGC-CGC at ntd 244 -> Cys-Arg at codon 66 | Canale-Smith syndrome | 2.5y | Female | lymphadenopathy, hepatosplenomegaly | Hemolytic anemia, membranous nephropathy | increase | <40% of ctrl | Vaishnaw,A.K. et al. J.Clin.Invest. 103,355(1999) | - |
| M | 361 | 1 | T | R105W | 1 | CGG-TGG at ntd 361 -> Arg-Trp at codon 105 | Autoimmune lymphoproliferative syndrome | 1m | Male | splenomegaly, lymphadenopathy | hypergammaglobulinemia | CD4-8-TCRa/b+=41 | 7 | Bettinardi,A. et al. Blood 89,902(1997) | patient 1 |
| M | 361 | 1 | T | R105W | 1 | CGG-TGG at ntd 361 -> Arg-Trp at codon 105 | Autoimmune lymphoproliferative syndrome | 1y6m | Male | splenomegaly, lymphadenopathy | Autoimmune hemolytic anemia, thrombocytopenia | CD4-8-TCRa/b+=45 | 7 | Bettinardi,A. et al. Blood 89,902(1997) | patient 2 |
| M | 361 | 1 | T | R105W | 1 | CGG-TGG at ntd 361 -> Arg-Trp at codon 105 | Autoimmune lymphoproliferative syndrome | 1y | Male | splenomegaly, lymphadenopathy | ND*2 | CD4-8-TCRa/b+=37 | 7 | Bettinardi,A. et al. Blood 89,902(1997) | patient 3 |
| M | 695 | 1 | G | Y216C | 1 | TAT-TGT at ntd 695 -> Tyr-Cys at codon 216 | Autoimmune lymphoproliferative syndrome | 1m | Male | splenomegaly, lymphadenopathy | hypergammaglobulinemia | CD4-8-TCRa/b+=41 | 7 | Bettinardi,A. et al. Blood 89,902(1997) | patient 1 |
| M | 695 | 1 | G | Y216C | 1 | TAT-TGT at ntd 695 -> Tyr-Cys at codon 216 | Autoimmune lymphoproliferative syndrome | 1y6m | Male | splenomegaly, lymphadenopathy | Autoimmune hemolytic anemia, thrombocytopenia | CD4-8-TCRa/b+=45 | 7 | Bettinardi,A. et al. Blood 89,902(1997) | patient 2 |
| M | 695 | 1 | G | Y216C | 1 | TAT-TGT at ntd 695 -> Tyr-Cys at codon 216 | Autoimmune lymphoproliferative syndrome | 1y | Male | splenomegaly, lymphadenopathy | ND | CD4-8-TCRa/b+=37 | 7 | Bettinardi,A. et al. Blood 89,902(1997) | patient 3 |
| M | 722 | 1 | A | T225K | 1 | ACA-AAA at ntd 722 -> Thr-Lys at codon 225 | Autoimmune lymphoproliferative syndrome | 5y | ND | lymphadenopathy, hepatosplenomegaly | ND | CD3+CD4-8-TCRa/b+=8_18 | 0 | Jackson,C.E. et al. Am.J.Hum.Genet. 64,1002(1999) | - |
| M | 721 | 1 | C | T225P | 1 | ACA-CCA at ntd 721 -> Thr-Pro at codon 225 | Autoimmune lymphoproliferative syndrome | 5y | Male | adenopathy, spleen enlargement | hemolytic anemia, urticarial rash, neutropenia, thrombocytopenia | CD3+CD4-8-=15 | 10 | Fisher,G.H. et al. Cell 81,935(1995) | - |
| M | 749 | 1 | A | R234Q | 1 | CGA-CAA at ntd 749 -> Arg-Gln at codon 234 | Autoimmune lymphoproliferative syndrome | 2y | ND | lymphadenopathy, hepatosplenomegaly | ND | CD3+CD4-8-TCRa/b+=2 | 0 | Jackson,C.E. et al. Am.J.Hum.Genet. 64,1002(1999) | - |
| M | 749 | 1 | C | R234P | 1 | CGA-CCA at ntd 749 -> Arg-Pro at codon 234 | Canale-Smith syndrome | Neonate | Female | ND | Severe Autoimmune hemolytic anemia, rashes(s), neutropenia, thrombocytopenia | increase | <40% of ctrl | Vaishnaw,A.K. et al. J.Clin.Invest. 103,355(1999) | - |
| N | 748 | 1 | T | R234X | 1 | CGA-TGA at ntd 748 -> Arg-Stop at codon 234 | Autoimmune lymphoproliferative syndrome | 4m | Male | splenomegaly, lymphadenopathy | hemolytic anemia, neutropenia, thrombocytopenia, hypergammaglobulinemia | CD3+CD4-8-=>20 | 11 | Drappa,J. et al. N.Engl.J.Med. 335,1643(1996) | - |
| M | 770 | 1 | A | A241D | 1 | GCC-GAC at ntd 770 -> Ala-Asp at codon 241 | Autoimmune lymphoproliferative syndrome | 4m | Female | lymphadenopathy, hepatosplenomegaly | hemolytic anemia | CD3+CD4-8-TCRa/b+=13 | 21 | Sneller,M.C. et al. Blood 89,1341(1997) | - |
| M | 779 | 1 | G | D244G | 1 | GAT-GGT at ntd 779 -> Asp-Gly at codon 244 | Canale-Smith syndrome | Neonate | Male | lymphadenopathy, hepatosplenomegaly | Autoimmune hemolytic anemia, thrombocytopenia | increase | <40% of ctrl | Vaishnaw,A.K. et al. J.Clin.Invest. 103,355(1999) | - |
| M | 779 | 1 | T | D244V | 1 | GAT-GTT at ntd 779 -> Asp-Val at codon 244 | Autoimmune lymphoproliferative syndrome | Neonate | Male | hepatosplenomegaly, adenopathy | hemolytic anemia | CD4-8-TCRa/b+=2.1 | 1 | Infante,A.J. et al. J.Pediatr. 133,629(1998) | - |
| M | 778 | 1 | T | D244Y | 1 | GAT-TAT at ntd 778 -> Asp-Tyr at codon 244 | Autoimmune lymphoproliferative syndrome | 7m | Male | massive lymphadenopathy | Autoimmune hemolytic anemia, thrombocytopenia | CD3+CD4-8-=>20 | 13 | Drappa,J. et al. N.Engl.J.Med. 335,1643(1996) | - |
| M | 809 | 1 | T | T254I | 1 | ACA-ATA at ntd 809 -> Thr-Ile at codon 254 | Canale-Smith syndrome | Neonate | Female | lymphopenia, lymphoadenopathy | neutropenia, Autoimmune hemolytic anemia, recurrent painful oral ulceration, premature ovarian failure(s) | increase | <40% of ctrl | Vaishnaw,A.K. et al. J.Clin.Invest. 103,355(1999) | - |
| N | 817 | 1 | T | Q257X | 1 | CAG-TAG at ntd 817 -> Gln-Stop at codon 257 | Autoimmune lymphoproliferative syndrome | 2m | Male | adenopathy, spleen enlargement | hemolytic anemia, urticarial rash, neutropenia, thrombocytopenia | CD3+CD4-8-=16 | NoDATA | Fisher,G.H. et al. Cell 81,935(1995) | - |
| N | 826 | 1 | T | Q260X | 1 | CAA-TAA at ntd 826 -> Gln-Stop at codon 260 | Autoimmune lymphoproliferative syndrome | 11m | ND | lymphadenopathy, splenomegaly | hemolytic anemia | CD3+CD4-8-TCRa/b+=6_9 | 0 | Jackson,C.E. et al. Am.J.Hum.Genet. 64,1002(1999) | - |
| M | 929 | 1 | G | I294S | 1 | ATT-AGT at ntd 929 -> Ile-Ser at codon 294 | Autoimmune lymphoproliferative syndrome | 4m | Female | lymphadenopathy, hepatosplenomegaly | hemolytic anemia, neutropenia | CD3+CD4-8-TCRa/b+=11 | 18 | Sneller,M.C. et al. Blood 89,1341(1997) | - |
| S | 334+2 | 0 | T | 334+1insT | 1 | 1-bp ins T at ntd 334+1 -> splice doner site change after codon 95; abberant splicing | Autoimmune lymphoproliferative syndrome | 18m | Female | adenopathy, spleen enlargement | hemolytic anemia, urticarial rash, thrombocytopenia, glomerulitis | CD3+CD4-8-=40 | 40 | Fisher,G.H. et al. Cell 81,935(1995) | - |
| FI | 165 | 0 | GGCCAAT | 165ins7 | 1 | 7-bp ins GGCCAAT at ntd 165 -> frameshift at codon 42 | Canale-Smith syndrome | 2y | Male | lymphadenopathy, hepatosplenomegaly | urticarial rashes, Autoimmune hemolytic anemia, thrombocytopenia | increase | <40% of ctrl | Vaishnaw,A.K. et al. J.Clin.Invest. 103,355(1999) | - |
| FI | 692 | 0 | T | 692insT | 1 | 1-bp ins T at ntd 692 -> frameshift at codon 215 | Autoimmune lymphoproliferative syndrome | 15y? | Female | lymphadenopathy | hypergammaglobulinemia, thrombocytopenia | CD3+CD4-8-=>20 | 3 | Drappa,J. et al. N.Engl.J.Med. 335,1643(1996) | - |
| FD | 46 | 2 | 46delGC | 1 | 2-bp del GC at ntd 46 -> frameshift at codon -2 | Canale-Smith syndrome | 4y | Male | lymphadenopathy | Guillain-Barre syndrome, Autoimmune hemolytic anemia, thrombocytopenia | increase | <40% of ctrl | Vaishnaw,A.K. et al. J.Clin.Invest. 103,355(1999) | - | |
| FD | 235 | 1 | 235delG | 1 | 1-bp del G at ntd 235 -> frameshift at codon 62 | Autoimmune lymphoproliferative syndrome | 6m | Male | adenopathy, spleen enlargement | urticarial rash, neutropenia, thrombocytopenia | CD3+CD4-8-=30 | 45 | Fisher,G.H. et al. Cell 81,935(1995) | - | |
| FD | 809 | 2 | 809delCA | 1 | 2-bp del CA at ntd 809 -> frameshift at codon 253 | Autoimmune lymphoproliferative syndrome | 5y | Female | hepatosplenomegaly | neutropenia, thrombocytopenia, hypergammaglobulinemia | CD3+CD4-8-=41 | 20 | Rieux-Laucat,F. et al. SCIENCE 268,1347(1995) | - | |
| FD | 809 | 2 | 809delCA | 1 | 2-bp del CA at ntd 809 -> frameshift at codon 253 | Autoimmune lymphoproliferative syndrome | Neonate | Male | hepatosplenomegaly | hemolytic anemia, autoimmune thrombocytopenia, hypergammaglobulinemia | CD3+CD4-8-=38 | 20 | Rieux-Laucat,F. et al. SCIENCE 268,1347(1995) | - | |
| FD | 880 | 1 | 880delT | 1 | 1-bp del T at ntd 880 -> frameshift at codon 277 | Autoimmune lymphoproliferative syndrome | 1y | ND | lymphadenopathy, splenomegaly | hemolytic anemia, glomerulonephritis, immune-mediated thrombocytopenia purpura, autoimmune neutropenia | CD3+CD4-8-TCRa/b+=7_19 | 5 | Jackson,C.E. et al. Am.J.Hum.Genet. 64,1002(1999) | - | |
| S | 569-2 | 1 | C | 549-2A->C | 1 | ntd 562-2 A-C -> splice acceptor site change after codon 173; abbebant splicing | Autoimmune lymphoproliferative syndrome | 2y | Male | adenopathy, spleen enlargement | urticarial rash, neutropenia | CD3+CD4-8-=18 | 45 | Fisher,G.H. et al. Cell 81,935(1995) | - |
| S | 651+2 | 1 | A | 651+2T->A | 1 | ntd 651+2 T-A -> splice doner site change after codon 201; frameshift, termination at position 209 | Canale-Smith syndrome | Neonate | Male | lymphadenopathy, hepatosplenomegaly | Hemolytic anemia, urticarial rash, thrombocytopenia | increase | <40% of ctrl | Vaishnaw,A.K. et al. J.Clin.Invest. 103,355(1999) | - |
| LD | 916 | 290 | 916del290 | 1 | Large Deletion in Exon 9 | Autoimmune lymphoproliferative syndrome | Neonate | Female | hepatosplenomegaly | autoimmune thrombocytopenia, hypergammaglobulinemia | CD3+CD4-8-=70 | NotDetect | Rieux-Laucat,F. et al. SCIENCE 268,1347(1995) | - |