Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity

New England Journal of Medicine

Volumn 335, Issue 22, 1996, Pages 1643-1649

  Drappa, Jörn ^a   Vaishnaw, Akshay K ^a   Sullivan, Kathleen E ^b   Chu, Jia Li ^a   Elkon, Keith B ^a,c  

^a WEILL CORNELL MEDICAL CENTER   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c HOSPITAL FOR SPECIAL SURGERY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOIMMUNITY; CASE REPORT; CHILD; FEMALE; FLOW CYTOMETRY; GENE MUTATION; HUMAN; LYMPHADENOPATHY; LYMPHOPROLIFERATIVE DISEASE; MALE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SYNDROME; T LYMPHOCYTE;

ADULT; ANTIGENS, CD95; APOPTOSIS; AUTOIMMUNE DISEASES; CHILD; FEMALE; FRAMESHIFT MUTATION; HUMANS; LIGANDS; LYMPHATIC DISEASES; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; SYNDROME; T-LYMPHOCYTES;

EID: 0029802697     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199611283352204     Document Type: Article

References (44)

1. Canale VC, Smith CH. Chronic lymphadenopathy simulating malignant lymphoma. J Pediatr 1967;70:891-9.
2. Kellerer K, Mutz I. Chronische pseudomaligne Immunoproliferation (Canale-Smith-Syndrom). Eur J Pediatr 1976;121:203-13.
3. Malzberg MS, Haller JO, Snieckus PJ, Halpern SL. Canale-Smith syndrome: chronic pseudomalignant lymphadenopathy. J Clin Ultrasound 1991;19:172-4.
4. Rosai J, Dorfman RF. Sinus histiocytosis with massive lymphadenopathy: a pseudolymphomatous benign disorder: analysis of 34 cases. Cancer 1972;30:1174-88.
5. Nagata S, Golstein P. The Fas death factor. Science. 1995;267:1449-56.
6. Ashany D, Song X, Lacy E, Nikolik-Zugic J, Friedman SM, Elkon KB. Th1 CD4+ lymphocytes delete activated macrophages through the Fas/APO-1 antigen pathway. Proc Natl Acad Sci U S A 1995;92:11225-9.
7. Mysler E, Bini P, Drappa J, et al. The apoptosis-I/Fas protein in human systemic lupus erythematosus. J Clin Invest 1994;93:1029-34.
8. Trauth BC, Klas C, Peters AMJ, et al. Monoclonal antibody-mediated tumor regression by induction of apoptosis. Science 1989;245:301-5.
9. Walsh CM, Glass AA, Chiu V, Clark WR. The role of the Fas lytic pathway in a perforin-less CTL hybridoma. J Immunol 1994;153:2506-14.
10. 2+-independent T cell-mediated cytotoxicity. J Exp Med 1993;177:195-200.
11. Chu JL, Drappa J, Parnassa AP, Elkon KB. The defect in Fas mRNA expression in MRL/lpr mice is associated with: insertion of the retrotransposon, ETn. J Exp Med 1993;178:723-30.
12. Behrmann I, Walczak H, Krammer PH. Structure of the human APO-1 gene. Eur J Immunol 1994;24:3057-62.
13. Takahashi T, Tanaka M, Inazawa J, Abe T, Suda T, Nagata S. Human Fas ligand: gene structure, chromosomal location: and species specificity. Int Immunol 1994;6:1567-74.
14. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning: a laboratory manual. 2nd ed. Cold Spring Harbor, N.Y.: Cold Spring Harbor Laboratory Press, 1989.
15. Wright DK, Manos MM. Sample preparation from paraffin-embedded tissues. In: Innis MA, Gelfand DH, Sninsky JJ, White TJ, eds. PCR protocols: a guide to methods and applications. San Diego: Academic Press, 1990:153-8.
16. Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989;5:874-9.
17. Ashany D, Hines J, Gharavi A, Mouradian J, Elkon KB. Analysis of autoantibody production in SCID-systemic lupus erythematosus (SLE) chimeras. Clin Exp Immunol 1992;88:84-90.
18. Gharavi AE, Sammaritano LR, Wen J, Elkon KB. Induction of antiphospholipid autoantibodies by immunization with beta 2 glycoprotein I (apolipoprotein H). J Clin Invest 1992;90:1105-9.
19. Kaell AT, Redecha PR, Elkon KB, et al. Occurrence of antibodies to Borrelia burgdorferi in patients with nonspirochetal subacute bacterial endocarditis. Ann Intern Med 1993;119:1079-83.
20. 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;356:314-7.
21. Fiucci G, Ruberti G. Detection of polymorphisms within the Fas cDNA gene sequence by GC-clamp denaturing gradient gel electrophoresis. Immunogenetics 1994;39:437-9.
22. Cohen PL, Eisenberg RA. Lpr and gld: single gene models of systemic autoimmunity and lymphoproliferative disease. Annu Rev Immunol 1991; 9:243-69.
23. Tartaglia LA, Ayres TM, Wong GHW, Goeddel DV. A novel domain within the 55 kd TNF receptor signals cell death. Cell 1993;74:845-53.
24. Chinnaiyan AM, O'Rourke K, Tewari M, Dixit VM. FADD, a novel death domain-containing protein, interacts with the death domain of Fas and initiates apoptosis. Cell 1995;81:505-12.
25. Dhein J, Daniel PT, Trauth BC, Oehm A, Moller P, Krammer PH. Induction of apoptosis by monoclonal antibody anti-APO-1 class switch variants is dependent on cross-linking of APO-1 cell surface antigens. J Immunol 1992;149:3166-73.
26. Itoh N, Nagata S. A novel protein domain required for apoptosis: mutational analysis of human Fas antigen. J Biol Chem 1993;268:10932-7.
27. cg in the heterozygous state on different genetic backgrounds. Cell Immunol 1993;148:91-102.
28. Fisher GH, Rosenberg FJ, Straus SE, et al. Dominant interfering Fas gene mutations impair apoptosis in a human lymphoproliferative syndrome. Cell 1995;81:935-46.
29. Izui S, Kelley VE, Masuda K, Yoshida H, Roths JB, Murphy ED. Induction of various autoantibodies by mutant gene lpr in several strains of mice. J Immunol 1984;133:227-33.
30. Warren RW, Caster SA, Roths JB, Murphy ED, Pisetsky DS. The influence of the lpr gene on B cell activation: differential antibody expression in lpr congenic mouse strains. Clin Immunol Immunopathol 1984;31:65-77.
31. Sneller MC, Straus SE, Jaffe ES, et al. A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease. J Clin Invest 1992;90:334-41.
32. Ricux-Laucat F, Le Deist F, Hivroz C, et al. Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science 1995;268:1347-9.
33. Thompson CB. Apoptosis in the pathogenesis and treatment of disease. Science 1995;267:1456-62.
34. Zheng L, Fisher G, Miller RE, Peschon J, Lynch DH, Lenardo MJ. Induction of apoptosis in mature T cells by tumour necrosis factor. Nature 1995;377:348-51.
35. Zhou T, Edwards CK III, Yang P, Wang Z, Bluethmann H, Mountz JD. Greatly accelerated lymphadenopathy and autoimmune disease in lpr mice lacking tumor necrosis factor receptor I. J Immunol 1996;156:2661-5.
36. Leithauser F, Dhein J, Mechtersheimer G, et al. Constitutive and induced expression of APO-1, a new member of the nerve growth factor/tumor necrosis factor receptor superfamily, in normal and neoplastic cells. Lab Invest 1993;69:415-29.
37. Ogasawara J, Watanabe-Fukunaga R, Adachi M, et al. Lethal effect of the anti-Fas antibody in mice. Nature 1993;364:806-9. [Erratum, Nature 1993;365:568.]
38. Galle PR, Hofmann WJ, Walczak H, et al. Involvement of the CD95 (APO-1/Fas) receptor and ligand in liver damage. J Exp Med 1995;182: 1223-30.
39. Hiramatsu N, Hayashi N, Katayama K, et al. Immunohistochemical detection of Fas antigen in liver tissue of patients with chronic hepatitis C. Hepatology 1994;19:1354-9.
40. Adachi M, Suematsu S, Kondo T, et al. Targeted mutation in the Fas gene causes hyperplasia in peripheral lymphoid organs and liver. Nat Genet 1995;11:294-300.
41. Arase H, Arase N, Saito T Fas-mediated cytotoxicity by freshly isolated natural killer cells. J Exp Med 1995;181:1235-8.
42. Rensing-Ehl A, Frei K, Flury R, et al. Local Fas/APO-1 (CD95) ligand-mediated tumor cell killing in vivo. Eur J Immunol 1995;25:2253-8.
43. Montel AH, Bochan MR, Hobbs JA, Lynch DH, Brahmi Z. Fas involvement in cytotoxicity mediated by human NK cells. Cell Immunol 1995;166:236-46.
44. Lin A, Dale J, Fleisher T, et al. Familial aggregation of Hodgkin's disease (HD), autoimmune lymphoproliferative syndrome (ALPS) and germ line Fas mutations. Blood 1995;86:Suppl 1:271a. abstract.