References
1. Wu J, Wilson J, He J, Xiang L, Schur PH, Mountz JD. Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease. J Clin Invest. 1996 Sep 1;98(5):1107-13. [Entrez]
2. Wang J, Zheng L, Lobito A, Chan FK, Dale J, Sneller M, et al. Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. Cell. 1999 Jul 9;98(1):47-58. [Entrez]
3. Fisher GH, Rosenberg FJ, Straus SE, Dale JK, Middleton LA, Lin AY et al. Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell. 1995 Jun 16;81(6):935-46. [Entrez]
4. Rieux-Laucat F, Le Deist F, Hivroz C, Roberts IA, Debatin KM, Fischer A, de Villartay JP. Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science. 1995 Jun 2;268(5215):1347-9. [Entrez]
5. Drappa J, Vaishnaw AK, Sullivan KE, Chu JL, Elkon KB. Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity. N Engl J Med. 1996 Nov 28;335(22):1643-9. [Entrez]
6. Bettinardi A, Brugnoni D, Quiros-Roldan E, Malagoli A, La Grutta S, Correra A, Notarangelo LD. Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. Blood. 1997 Feb 1;89(3):902-9. [Entrez]
7. Sneller MC, Wang J, Dale JK, Strober W, Middelton LA, Choi Y et al. Clinical, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. Blood. 1997 Feb 15;89(4):1341-8. [Entrez]
8. Pensati L, Costanzo A, Ianni A, Accapezzato D, Iorio R, Natoli G et al. Fas/Apo1 mutations and autoimmune lymphoproliferative syndrome in a patient with type 2 autoimmune hepatitis. Gastroenterology. 1997 Oct;113(4):1384-9. [Entrez]
9. Kasahara Y, Wada T, Niida Y, Yachie A, Seki H, Ishida Y et al. Novel Fas (CD95/APO-1) mutations in infants with a lymphoproliferative disorder. Int Immunol. 1998 Feb;10(2):195-202. [Entrez]
10. Infante AJ, Britton HA, DeNapoli T, Middelton LA, Lenardo MJ, Jackson CE et al. The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis. J Pediatr. 1998 Nov;133(5):629-33. [Entrez]
11. Haas JP, Grunke M, Frank C, Kolowos W, Dirnecker D, Leipold G et al. Increased spontaneous in vitro apoptosis in double negative T cells of humans with a fas/apo-1 mutation. Cell Death Differ. 1998 Sep;5(9):751-7. [Entrez]
12. Van der Werff ten Bosch JE, Demanet C, Balduck N, Bakkus MH, De Raeve H, Desprechins B et al. The use of the anti-malaria drug Fansidar (pyrimethamine and sulphadoxine) in the treatment of a patient with autoimmune lymphoproliferative syndrome and Fas deficiency. Br J Haematol. 1998 Jul;102(2):578-81. [Entrez]
13. Sleight BJ, Prasad VS, DeLaat C, Steele P, Ballard E, Arceci RJ, Sidman CL. Correction of autoimmune lymphoproliferative syndrome by bone marrow transplantation. Bone Marrow Transplant. 1998 Aug;22(4):375-80. [Entrez]
14. Vaishnaw AK, Orlinick JR, Chu JL, Krammer PH, Chao MV, Elkon KB. The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations. J Clin Invest. 1999 Feb;103(3):355-63. [Entrez]
15. Jackson CE, Fischer RE, Hsu AP, Anderson SM, Choi Y, Wang J et al. Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. Am J Hum Genet. 1999 Apr;64(4):1002-14. [Entrez]
16. Peters AM, Kohfink B, Martin H, Griesinger F, Wormann B, Gahr M, Roesler J. Defective apoptosis due to a point mutation in the death domain of CD95 associated with autoimmune lymphoproliferative syndrome, T-cell lymphoma, and Hodgkin's disease. Exp Hematol. 1999 May;27(5):868-74. [Entrez]
17. Rieux-Laucat F, Blanchère S, Danielan S, de Villartay JP, Oleastro M, Solary E et al. Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations. Blood. 1999 Oct 15;94(8):2575-82. [Entrez]
18. Inazawa J, Itoh N, Abe T, Nagata S. Assignment of the human Fas antigen gene (Fas) to 10q24.1. Genomics. 1992 Nov;14(3):821-2. [Entrez]
19. Martin DA, Zheng L, Siegel RM, Huang B, Fisher GH, Wang J et al. Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia. Proc Natl Acad Sci U S A. 1999 Apr 13;96(8):4552-7. [Entrez]
20. Canale VC, Smith CH. Chronic lymphadenopathy simulating malignant lymphoma. J Pediatr. 1967 Jun;70(6):891-9. [Entrez]
21. Sneller MC, Straus SE, Jaffe ES, Jaffe JS, Fleisher TA, Stetler-Stevenson M, Strober W. A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease. J Clin Invest. 1992 Aug;90(2):334-41. [Entrez]
22. Theofilopoulos AN, Dixon FJ. Murine models of systemic lupus erythematosus. Adv Immunol. 1985;37:269-390. [Entrez]
23. Cohen PL, Eisenberg RA. Lpr and gld: single gene models of systemic autoimmunity and lymphoproliferative disease. Annu Rev Immunol. 1991;9:243-69. [Entrez]
24. Watanabe-Fukunaga R, Brannan CI, Copeland NG, Jenkins NA, Nagata S. Lymphoproliferation disorder in mice explained by defects in Fas antigen that mediates apoptosis. Nature. 1992 Mar 26;356(6367):314-7. [Entrez]
25. Takahashi T, Tanaka M, Brannan CI, Jenkins NA, Copeland NG, Suda T, Nagata S. Generalized lymphoproliferative disease in mice, caused by a point mutation in the Fas ligand. Cell. 1994 Mar 25;76(6):969-76. [Entrez]
26. Brunner T, Mogil RJ, LaFace D, Yoo NJ, Mahboubi A, Echeverri F et al. Cell-autonomous Fas (CD95)/Fas-ligand interaction mediates activation-induced apoptosis in T-cell hybridomas. Nature. 1995 Feb 2;373(6513):441-4. [Entrez]
27. Dhein J, Walczak H, Baumler C, Debatin KM, Krammer PH. Autocrine T-cell suicide mediated by APO-1 (Fas/CD95). Nature. 1995 Feb 2;373(6513):438-41. [Entrez]
28. Ju ST, Panka DJ, Cui H, Ettinger R, el-Khatib M, Sherr DH et al. Fas(CD95)/FasL interactions required for programmed cell death after T-cell activation. Nature. 1995 Feb 2;373(6513):444-8. [Entrez]
29. Ashkenazi A, Dixit VM. Death receptors: signaling and modulation. Science. 1998 Aug 28;281(5381):1305-8. [Entrez]
30. Sneller, MC. Clincal Features and Management, pp. 593-5. In: Straus, SE, moderator. An inherited disorder of lymphocyte apoptosis: the autoimmune lymphoproliferative syndrome. Ann Intern Med. 1999 Apr 6;130(7): 591-601. [Entrez]
31. Landowski TH, Qu N, Buyuksal I, Painter JS, Dalton WS. Mutations in the Fas antigen in patients with multiple myeloma. Blood. 1997 Dec 1;90(11):4266-70. [Entrez]
32. Beltinger C, Kurz E, Bohler T, Schrappe M, Ludwig WD, Debatin KM. CD95 (APO-1/Fas) mutations in childhood T-lineage acute lymphoblastic leukemia. Blood. 1998 May 15;91(10):3943-51. [Entrez]
33. Grønbæk K, Straten PT, Ralfkiaer E, Ahrenkiel V, Andersen MK, Hansen NE et al. Somatic Fas mutations in non-Hodgkin's lymphoma: association with extranodal disease and autoimmunity. Blood. 1998 Nov 1;92(9):3018-24. [Entrez]
34. Maeda T, Yamada Y, Moriuchi R, Sugahara K, Tsuruda K, Joh T et al. Fas gene mutation in the progression of adult T cell leukemia. J Exp Med. 1999 Apr 5;189(7):1063-71. [Entrez]
35. Lee SH, Shin MS, Park WS, Kim SY, Kim HS, Han JY et al. Alterations of Fas (Apo-1/CD95) gene in non-small cell lung cancer. Oncogene. 1999 Jun 24;18(25):3754-60. [Entrez]
36. Shin MS, Park WS, Kim SY, Kim HS, Kang SJ, Song KY et al. Alterations of Fas (Apo-1/CD95) gene in cutaneous malignant melanoma. Am J Pathol. 1999 Jun;154(6):1785-91. [Entrez]
37. Lee SH, Shin MS, Park WS, Kim SY, Dong SM, Pi JH et al. Alterations of Fas (APO-1/CD95) gene in transitional cell carcinomas of urinary bladder. Cancer Res. 1999 Jul 1;59(13):3068-72. [Entrez]
38. Lim MS, Straus SE, Dale JK, Fleisher TA, Stetler-Stevenson M, Strober W, et al. Pathological findings in human autoimmune lymphoproliferative syndrome. Am J Pathol. 1998 Nov;153(5):1541-50. [Entrez]
39. Puck JM, Straus SE, Le Deist F, Rieux-Laucat F, Fischer A. Inherited disorders with autoimmunity and defective lymphocyte regulation. In: Primary immunodeficiency diseases, a molecular and genetic approach. Ed. Ochs HD, Smith CIE, Puck JM. New York;1999:339-52.
40. Avila NA, Dwyer AJ, Dale JK, Lopatin UA, Sneller MC, Jaffe ES, Puck JM, Straus SE. Autoimmune lymphoproliferative syndrome: a syndrome associated with inherited genetic defects that impair lymphocytic apoptosis--CT and US features. Radiology. 1999 Jul;212(1):257-63. [Entrez]
41. Benkerrou M, Le Deist F, de Villartay JP, Caillat-Zucman S, Rieux-Laucat F, Jabado N et al. Correction of Fas (CD95) deficiency by haploidentical bone marrow transplantation. Eur J Immunol. 1997 Aug;27(8):2043-7. [Entrez]
42. Huang B, Eberstadt M, Olejniczak ET, Meadows RP, Fesik SW. NMR structure and mutagenesis of the Fas (APO-1/CD95) death domain. Nature. 1996 Dec 19-26;384(6610):638-41. [Entrez]
43. Schneider P, Thome M, Burns K, Bodmer JL, Hofmann K, Kataoka T, et al. TRAIL receptors 1 (DR4) and 2 (DR5) signal FADD-dependent apoptosis and activate NF-kappaB. Immunity. 1997 Dec;7(6):831-6. [Entrez]
44. Chaudhary PM, Eby M, Jasmin A, Bookwalter A, Murray J, Hood L. Death receptor 5, a new member of the TNFR family, and DR4 induce FADD-dependent apoptosis and activate the NF-kappaB pathway. Immunity. 1997 Dec;7(6):821-30. [Entrez]
45. Wang J, Zheng L, Lobito A, Chan FK, Dale J, Sneller M, Yao X, Puck JM, Straus SE, Lenardo MJ. Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. Cell. 1999 Jul 9;98(1):47-58. [Entrez]
back to top