Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations

Blood

Volumn 94, Issue 8, 1999, Pages 2575-2582

  Rieux Laucat, Frédéric ^a   Blachère, Séverine ^b   Danielan, Sylvia ^b   De Villartay, Jean Pierre ^b   Oleastro, Mathias ^b   Solary, Eric ^b   Bader Meunier, Brigitte ^b   Arkwright, Peter ^b   Pondaré, Corinne ^b   Bernaudin, Françoise ^b   Chapel, Helen ^b   Nielsen, Susan ^b   Berrah, Mohamed ^b   Fischer, Alain ^b   Le Deist, Françoise ^b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

FAS ANTIGEN;

ADOLESCENT; ADULT; AGING; APOPTOSIS; ARTICLE; AUTOIMMUNITY; AUTOSOMAL DOMINANT INHERITANCE; CELL DEATH; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; GENE MUTATION; HOMEOSTASIS; HUMAN; INFANT; LYMPHOCYTE PROLIFERATION; LYMPHOPROLIFERATIVE DISEASE; MALE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGE FACTORS; AMINO ACID SUBSTITUTION; ANTIGENS, CD95; APOPTOSIS; AUTOIMMUNE DISEASES; CHILD; EXONS; FEMALE; FOLLOW-UP STUDIES; GENES, DOMINANT; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; HYPERGAMMAGLOBULINEMIA; HYPERSPLENISM; INFANT; LYMPHOPROLIFERATIVE DISORDERS; MALE; POINT MUTATION; SPLENECTOMY; SPLENOMEGALY; T-LYMPHOCYTES; UVEITIS;

EID: 13044277571     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (44)

1. Nagata S, Golstein P: The Fas death factor. Science 267:1449, 1995
2. Ashkenazi A, Dixit VM: Death receptors: Signaling and modulation. Science 281:1305, 1998
3. Chinnaiyan AM, O'Rourke K, Yu G, Lyons RH, Garg M, Duan DR, Xing L, Gentz R, Ni J, Dixit V: Signal transduction by DR3, a death domain-containing receptor related to TNF-R1 and CD95. Science 274:990, 1996
4. Kitson J, Raven T, Jiang Y, Goeddel DV, Giles KM, Pun K, Grinham CJ, Brown R, Farrow SN: A death-domain-containing receptor that mediates apoptosis. Nature 384:372, 1996
5. Marsters SA, Sheridan JP, Donahue CJ, Pitti RM, Gray CL, Goddard AD, Bauer KD, Ashkenazi A: Apo-3, a new member of the tumor necrosis factor receptor family, contains a death domain and activates apoptosis and NF-kappa B. Curr Biol 6:1669, 1996
6. Bodmer JL, Burns K, Schneider P, Hofmann K, Steiner V, Thome M, Bornand T, Hahne M, Schroter M, Becker K, Wilson A, French LE, Browning JL, MacDonald R, Tschopp J: TRAMP, a novel apoptosis-mediating receptor with sequence homology to TNFR1 and Fas (Apo-1/CD95). Immunity 6:79, 1997
7. Screaton GR, Xu XN, Olsen AL, Cowper AE, Tan R, McMichael AJ, Bell JI: LARD: A new lymphoid-specific death domain containing receptor regulated by alternative pre-mRNA splicing. Proc Natl Acad Sci USA 94:4615, 1997
8. Griffith TS, Lynch DH: TRAIL: A molecule with multiple receptors and control mechanisms. Curr Opin Immunol 10:559, 1998
9. Kischkel FC, Hellbardt S, Behrmann I, Germer M, Pawlita M, Krammer PH, Peter ME: Cytotoxicity-dependent APO-1 (Fas/CD95)-associated proteins form a death-inducing signaling complex (DISC) with the receptor. EMBO J 14:5579, 1995
10. Boldin M, Varfolomeev E, Pancer Z, Mett I, Camonis J, Wallach D: A novel protein that interacts with the death domain of fas/APO1 contains a sequence motif related to the death domain. J Biol Chem 270:7795, 1995
11. Chinnaiyan A, O'Rourke K, Tewari M, Dixit V: FADD, a novel death domain-containing protein, interacts with the death domains of fas and initiates apoptosis. Cell 81:505, 1995
12. Hsu H, Xiong J, Goeddel DV: The TNF receptor 1-associated protein TRADD signals cell death and NF-kappa B activation. Cell 81:495, 1995
13. Stanger B, Leder P, Lee T, Kim E, Seed B: RIP: A novel protein containing a death domain that interacts with fas/APO-1 (CD95) in yeast and causes cell death. Cell 81:513, 1995
14. Duan H, Dixit VM: RAIDD is a new 'death' adaptor molecule. Nature 385:86, 1997
15. Hofmann K, Bucher P, Tschopp J: The CARD domain: A new apoptotic signalling motif. Trends Biochem Sci 22:155, 1997
16. Muzio M, Chinnaiyan AM, Kischkel FC, O'Rourke K, Shevchenko A, Ni J, Scaffidi C, Bretz JD, Zhang M, Gentz R, Mann M, Krammer PH, Peter ME, Dixit VM: FLICE, a novel FADD-homologous ICE/CED3-like Protease, is recruited to the CD95 (Fas/APO-1) death-inducing signaling complex. Cell 85:817, 1996
17. Boldin MP, Goncharov TM, Goltsev YV, Wallach D: Involvement of MACH, a novel MORT1/FADD-interacting protease, in Fas/APO-1-and TNF receptor-induced cell death. Cell 85:803, 1996
18. Watanabe-Fukunaga R, Brannan CI, Copeland NG, Jenkins NA, Nagata S: Lymphoproliferation disorder in mice explained by defect in Fas antigen that mediates apoptosis. Nature 356:314, 1992
19. 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 76:969, 1994
20. 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 90:334, 1992
21. Rieux-Laucat F, Le Deist F, Hivroz C, Roberts I, Debatin K, Fischer A, de Villartay J: Mutations in fas associated with human lymphoproliferative syndrome and autoimmunity. Science 268:1347, 1995
22. Fisher G, Rosenberg F, Straus S, Dale J, Middelton L, Lin A, Strober W, Lenardo M, Puck J: Dominant interfering fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell 81:935, 1995
23. Kasahara Y, Wada T, Niida Y, Yachie A, Seki H, Ishida Y, Sakai T, Koizumi F, Koizumi S, Miyawaki T, Taniguchi N: Novel Fas (CD95/ APO-1) mutations in infants with a lymphoproliferative disorder. Int Immunol 10:195, 1998
24. Bettinardi A, Brugnoni D, Quirosroldan E, Malagoli A, Lagrutta S, Correra A, Notarangelo LD: Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome - A molecular and immunological analysis. Blood 89:902, 1997
25. Drappa J, Vaishnaw AK, Sullivan KE, Chu J-L, Elkon KB: Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity. N Engl J Med 335:1643, 1996
26. Le Deist F, Emile JF, Rieux-Laucat F, Benkerrou M, Roberts I, Brousse N, Fischer A: Clinical, immunological, and pathological consequences of Fas-deficient conditions. Lancet 348:719, 1996
27. Sneller MC, Wang J, Dale JK, Strober W, Middelton LA, Choi YN, Fleisher TA, Lim MS, Jaffe ES, Puck JM, Lenardo MJ, Straus SE: Clinical, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. Blood 89:1341, 1997
28. Infante AJ, Britton HA, DeNapoli T, Middelton LA, Lenardo MJ, Jackson CE, Wang J, Fleisher T, Straus SE, Puck JM: The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis. J Pediatr 133:629, 1998
29. Illum N, Ralfkiaer E, Pallesen G, Geisler C: Phenotypical and functional characterization of double-negative (CD4- CD8-) alpha beta T-cell receptor positive cells from an immunodeficient patient. Scand J Immunol 34:635, 1991
30. Trauth B, Klas C, Peters A, Matzku S, Möller P, Falk W, Debatin K, Krammer P: Monoclonal antibody-mediated tumor regression by induction of apoptosis. Science 245:301, 1989
31. Nicoletti I, Migliorati G, Pagliaci MC, Grignani F, Riccardi C: A rapid and simple method for measuring thymocyte apoptosis by propidium iodide staining and flow cytometry. J Immunol Methods 139:271, 1991
32. Sambrook J, Fritsch EF, Maniatis T: A Laboratory Manual (ed 2). Cold Spring Harbor, NY, Cold Spring Harbor Laboratory, 1989
33. Fiucci G, Ruberti G: Detection of polymorphisms within the Fas cDNA gene sequence by GC-clamp denaturing gradient gel electrophoresis. Immunogenetics 39:437, 1994
34. Soudais C, de Villartay JP, Le Deist F, Fischer A, Lisowska-Grospierre B: Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency. Nat Genet 3:77, 1993
35. Vidaud M, Gattoni R, Stevenin J, Vidaud D, Amselem S, Chibani J, Rosa J, Goossens M: A 5′ splice-region G→C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: A mechanism for beta+-thalassemia. Proc Natl Acad Sci USA 86:1041, 1989
36. Cooper DN, Krawczak M: Human Gene Mutation. Oxford, UK, Biosscientific, 1993
37. 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 149:3166, 1992
38. Cascino I, Papoff G, De Maria R, Testi R, Ruberti G: Fas/Apo-1 (CD95) receptor lacking the intracytoplasmic signaling domain protects tumor cells from Fas-mediated apoptosis. J Immunol 156:13, 1996
39. 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 103:355, 1999
40. Jackson CE, Fischer RE, Hsu AP, Anderson SM, Choi Y, Wang J, Dale JK, Fleisher TA, Middelton LA, Sneller MC, Lenardo MJ, Straus SE, Puck JM: Autoimmune lymphoproliferative syndrome with defective Fas: Genotype influences penetrance. Am J Hum Genet 64:1002, 1999
41. Adachi M, Suematsu S, Kondo T, Ogasawara J, Tanaka T, Yoshida N, Nagata S: Targeted mutation in the Fas gene causes hyperplasia in peripheral lymphoid organs and liver. Nat Genet 11:294, 1995
42. Cohen PL, Eisenberg RA: Lpr and gld: Single gene models of systemic autoimmunity and lymphoproliferative disease. Annu Rev Immunol 9:243, 1991
43. Fuss IJ, Strober W, Dale JK, Fritz S, Pearlstein GR, Puck JM, Lenardo MJ, Straus SE: Characteristic T helper 2 T cell cytokine abnormalities in autoimmune lymphoproliferative syndrome, a syndrome marked by defective apoptosis and humoral autoimmunity. J Immunol 158:1912, 1997
44. Itoh N, Yonehara S, Ishii A, Yonehara M, Mizushima S, Sameshima M, Hase A, Seto Y, Nagata S: The polypeptide encoded by the cDNA for human cell surface antigen Fas can mediate apoptosis. Cell 66:233, 1991