Disorders of apoptosis: Mechanisms for autoimmunity in primary immunodeficiency diseases

Journal of Clinical Immunology

Volumn 28, Issue SUPPL. 1, 2008, Pages

  Oliveira, João Bosco ^a   Gupta, Sudhir ^b,c  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Autoimmune lymphoproliferative syndrome; Caspases; Death receptors; Mitochondria

Indexed keywords

CASPASE 8; FAS ANTIGEN; TUMOR NECROSIS FACTOR ALPHA; TUMOR NECROSIS FACTOR RECEPTOR; TUMOR NECROSIS FACTOR RECEPTOR 1; TUMOR NECROSIS FACTOR RECEPTOR 2;

APOPTOSIS; AUTOIMMUNITY; CLINICAL FEATURE; CONFERENCE PAPER; DISEASE CLASSIFICATION; ENDOPLASMIC RETICULUM STRESS; ENZYME DEFICIENCY; GENE MUTATION; GENETIC DISORDER; GENOTYPE; HISTOPATHOLOGY; HUMAN; IMMUNE DEFICIENCY; LABORATORY TEST; LYMPHOPROLIFERATIVE DISEASE; MITOCHONDRION; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN INTERACTION;

ANIMALS; ANTIGENS, CD; APOPTOSIS; AUTOIMMUNITY; CASPASES; FAS LIGAND PROTEIN; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; LYMPHOPROLIFERATIVE DISORDERS; MICE; MUTATION; SIGNAL TRANSDUCTION;

EID: 44449101655     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-007-9161-4     Document Type: Conference Paper

References (42)

1. Krammer PH, Arnold R, Lavrik IN. Life and death in peripheral T cells. Nat Rev Immunol 2007;7:532-42.
2. Gupta S. A decision between life and death during TNF-alpha-induced signaling. J Clin Immunol 2002;22:185-94.
3. Kroemer G, Reed JC. Mitochondrial control of cell death. Nat Med 2000;6:513-9.
4. Green DR, Evan GI. A matter of life and death. Cancer Cell 2002;1:19-30.
5. Gupta S. Molecular steps of death receptor and mitochondrial pathways of apoptosis. Life Sci 2001;69:2957-64.
6. Screaton G, Xu XN. T cell life and death signalling via TNF-receptor family members. Curr Opin Immunol 2000;12:316-22.
7. Orrenius S, Zhivotovsky B, Nicotera P. Regulation of cell death: the calcium-apoptosis link. Nat Rev Mol Cell Biol 2003;4:552-65.
8. Xu C, Bailly-Maitre B, Reed JC. Endoplasmic reticulum stress: cell life and death decisions. J Clin Invest 2005;115:2656-64.
9. Gupta S, Gupta A. Death of memory T-cell subsets in humans: changes during aging. Expert Rev Clin Immunol 2007;3:637-45.
10. Kischkel FC, Lawrence DA, Tinel A, LeBlanc H, Virmani A, Schow P, Gazdar A, Blenis J, Arnott D, Ashkenazi A. Death receptor recruitment of endogenous caspase-10 and apoptosis initiation in the absence of caspase-8. J Biol Chem 2001;276:46639-46.
11. Sprick MR, Rieser E, Stahl H, Grosse-Wilde A, Weigand MA, Walczak H. Caspase-10 is recruited to and activated at the native TRAIL and CD95 death-inducing signalling complexes in a FADD-dependent manner but can not functionally substitute caspase-8. EMBO J 2002;21:4520-30.
12. Scaffidi C, Fulda S, Srinivasan A, Friesen C, Li F, Tomaselli KJ, Debatin KM, Krammer PH, Peter ME. Two CD95 (APO-1/Fas) signaling pathways. EMBO J 1998;17:1675-87.
13. Gupta S. Molecular steps of tumor necrosis factor receptor-mediated apoptosis. Curr Mol Med 2001;1:317-24.
14. Locksley RM, Killeen N, Lenardo MJ. The TNF and TNF receptor superfamilies: integrating mammalian biology. Cell 2001;104:487-501.
15. Reed JC. Proapoptotic multidomain Bcl-2/Bax-family proteins: mechanisms, physiological roles, and therapeutic opportunities. Cell Death Differ 2006;13:1378-86.
16. Fleisher TA, Oliveira JB. Autoimmune lymphoproliferative syndrome. Isr Med Assoc J 2005;7:758-61.
17. 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;90:334-41.
18. Fisher GH, Rosenberg FJ, Straus SE, Dale JK, Middleton LA, Lin AY, Strober W, Lenardo MJ, Puck JM. Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell 1995;81:935-46.
19. 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;268:1347-9.
20. Bidere N, Su HC, Lenardo MJ. Genetic disorders of programmed cell death in the immune system. Annu Rev Immunol 2006;24:321-52.
21. Oliveira JB, Fleisher T. Autoimmune lymphoproliferative syndrome. Curr Opin Allergy Clin Immunol 2004;4:497-503.
22. Bleesing JJ, Brown MR, Dale JK, Straus SE, Lenardo MJ, Puck JM, Atkinson TP, Fleisher TA. TcR-alpha/beta(+) CD4(-)CD8(-) T cells in humans with the autoimmune lymphoproliferative syndrome express a novel CD45 isoform that is analogous to murine B220 and represents a marker of altered O-glycan biosynthesis. Clin Immunol 2001;100:314-24.
23. Bleesing JJ, Brown MR, Straus SE, Dale JK, Siegel RM, Johnson M, Lenardo MJ, Puck JM, Fleisher TA. Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome. Blood 2001;98:2466-73.
24. Holzelova E, Vonarbourg C, Stolzenberg MC, Arkwright PD, Selz F, Prieur AM, Blanche S, Bartunkova J, Vilmer E, Fischer A, Le Deist F, Rieux-Laucat F. Autoimmune lymphoproliferative syndrome with somatic Fas mutations. N Engl J Med 2004;351:1409-18.
25. Lopatin U, Yao X, Williams RK, Bleesing JJ, Dale JK, Wong D, Teruya-Feldstein J, Fritz S, Morrow MR, Fuss I, Sneller MC, Raffeld M, Fleisher TA, Puck JM, Strober W, Jaffe ES, Straus ES. Increases in circulating and lymphoid tissue interleukin-10 in autoimmune lymphoproliferative syndrome are associated with disease expression. Blood 2001;97:3161-70.
26. Kim YJ, Dale JK, Noel P, Brown MR, Nutman TB, Straus SE, Klion AD. Eosinophilia is associated with a higher mortality rate among patients with autoimmune lymphoproliferative syndrome. Am J Hematol 2007;82:615-24.
27. Kwon SW, Procter J, Dale JK, Straus SE, Stroncek DF. Neutrophil and platelet antibodies in autoimmune lymphoproliferative syndrome. Vox Sang 2003;85:307-12.
28. Lim MS, Straus SE, Dale JK, Fleisher TA, Stetler-Stevenson M, Strober W, Sneller MC, Puck JM, Lenardo MJ, Elenitoba-Johnson KS, Lin AY, Raffeld M, Jaffe ES. Pathological findings in human autoimmune lymphoproliferative syndrome. Am J Pathol 1998;153:1541-50.
29. Bi LL, Pan G, Atkinson TP, Zheng L, Dale JK, Makris C, Reddy V, McDonald JM, Siegel RM, Puck JM, Lenardo MJ, Straus SE. Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib. BMC Med Genet 2007;8:41.
30. Oliveira JB, Bidere N, Niemela JE, Zheng L, Sakai K, Nix CP, Danner RL, Barb J, Munson PJ, Puck JM, Dale J, Straus SE, Fleisher TA, Lenardo MJ. NRAS mutation causes a human autoimmune lymphoproliferative syndrome. Proc Natl Acad Sci U S A 2007;104:8953-8.
31. Rao VK, Straus SE. Causes and consequences of the autoimmune lymphoproliferative syndrome. Hematology 2006;11:15-23.
32. Rieux-Laucat F. Inherited and acquired death receptor defects in human Autoimmune Lymphoproliferative Syndrome. Curr Dir Autoimmun 2006;9:18-36.
33. Siegel RM, Frederiksen JK, Zacharias DA, Chan FK, Johnson M, Lynch D, Tsien RY, Lenardo MJ. Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations. Science 2000;288:2354-7.
34. 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 1999;64:1002-14.
35. Vacek MM, Schaffer AA, Davis J, Fischer RE, Dale JK, Adams S, Straus SE, Puck JM. HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia). Clin Immunol 2006;118:59-65.
36. Zhu S, Hsu AP, Vacek MM, Zheng L, Schaffer AA, Dale JK, Davis J, Fischer RE, Straus SE, Boruchov D, Saulsbury FT, Lenardo MJ, Puck JM. Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. Hum Genet 2006;119:284-94.
37. 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;98:1107-13.
38. Del-Rey M, Ruiz-Contreras J, Bosque A, Calleja S, Gomez-Rial J, Roldan E, Morales P, Serrano A, Anel A, Paz-Artal E, Allende LM. A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome. Blood 2006;108:1306-12.
39. 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;98:47-58.
40. Chen M, Wang YH, Wang Y, Huang L, Sandoval H, Liu YJ, Wang J. Dendritic cell apoptosis in the maintenance of immune tolerance. Science 2006;311:1160-4.
41. Chun HJ, Zheng L, Ahmad M, Wang J, Speirs CK, Siegel RM, Dale JK, Puck J, Davis J, Hall CG, Skoda-Smith S, Atkinson TP, Straus SE, Lenardo MJ. Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. Nature 2002;419:395-9.
42. Su H, Bidere N, Zheng L, Cubre A, Sakai K, Dale J, Salmena L, Hakem R, Straus S, Lenardo M. Requirement for caspase-8 in NF-kappaB activation by antigen receptor. Science 2005;307:1465-8.