Advances in autoimmune lymphoproliferative syndromes

European Journal of Haematology

Volumn 87, Issue 1, 2011, Pages 1-9

  Madkaikar, Manisha ^a   Mhatre, Snehal ^a   Gupta, Maya ^a   Ghosh, Kanjaksha ^a  

^a KEM HOSPITAL   (India)

Author keywords

Apoptosis; Autoimmune lymphoproliferative syndrome; Double negative T cells; Treatment

Indexed keywords

ANTIBIOTIC AGENT; CASPASE 10; CASPASE 8; CORTICOSTEROID; FAS LIGAND; MYCOPHENOLIC ACID 2 MORPHOLINOETHYL ESTER; POLYSACCHARIDE VACCINE; RAPAMYCIN; RITUXIMAB;

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; AUTOIMMUNITY; COMPUTER ASSISTED TOMOGRAPHY; CYTOPENIA; DIARRHEA; DISEASE CLASSIFICATION; DRUG TOLERABILITY; HEPATOSPLENOMEGALY; HETEROZYGOTE; HUMAN; HYPERCHOLESTEROLEMIA; HYPERTENSION; LABORATORY TEST; LYMPHADENOPATHY; LYMPHOCYTE PROLIFERATION; MOLECULAR BIOLOGY; MUCOSA INFLAMMATION; MUTATION; NEUTROPENIA; PRIORITY JOURNAL; REVIEW; SPLENECTOMY;

ANTIGENS, CD95; APOPTOSIS; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; AUTOIMMUNITY; CELL PROLIFERATION; HUMANS; MODELS, BIOLOGICAL; MUTATION; NEOPLASMS; PROGNOSIS; RISK FACTORS; SIGNAL TRANSDUCTION;

EID: 79959508860     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/j.1600-0609.2011.01617.x     Document Type: Review

References (38)

1. Canale VC, Smith CH. Chronic lymphadenopathy simulating malignant lymphoma. J Paediatr 1967;70:891-9.
2. Sneller MC, Straus SE, Jaffe ES, et al. A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease. J Clin Invest 1992;90:334-44.
3. Watanabe-Fukunaga R, Brannan CI, Copeland NG, et al. Lymphoproliferation disorder in mice explained by defects in Fas antigen that mediates apoptosis. Nature 1992; 356:314-7.
4. Rieux-Laucat F, Le Deist F, Hivroz C, et al. Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science 1995;268:1347-9.
5. Fisher GH, Rosenberg FJ, Straus SE, et al. Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell 1995;81:935-46.
6. Lenardo M, Chan KM, Hornung F, McFarland H, Siegel R, Wang J, Zheng L. Mature T lymphocyte apoptosis- immune regulation in a dynamic and unpredictable antigenic environment. Annu Rev Immunol 1999;17:221-53.
7. Bleesing JJ. Autoimmune lymphoproliferative syndrome: a genetic disorder of abnormal lymphocyte apoptosis. Immunol Allergy Clin North Am 2002;22:339-49.
8. Puck JM, Rieux-Laucat F, Le Deist F, et al. Autoimmune lymphoproliferative syndrome. Primary Immunodeficiency Diseases: A Molecular and Genetic Approach, 2nd edn. Oxford University Press, Chapter 24, 326-41.
9. Turbyville JC, Rao VK. The autoimmune lymphoproliferative syndrome: a rare disorder providing clues about normal tolerance. Autoimmun Rev 2010;9:488-93.
10. Oliveira JB, Bleesing JJ, Dianzani U, et al. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome: report from the 2009 NIH International Workshop. Blood 2010;116:e35-40.
11. Takagi M, Shinoda K, Piao J, et al. Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation. Blood 2011;117:2887-90.
12. Niemela JE, Lu L, Fleisher TA, et al. Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis. Blood 2011;117:2883-6. Epub 2010 Nov 15.
13. Worth A, Thrasher AJ, Gaspar HB. Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical phenotype. Br J Haematol 2006;133:124-40.
14. Deutsch M, Tsopanou E, Dourakis SP. The autoimmune lymphoproliferative syndrome (Canale-Smith) in adulthood. Clin Rheumatol 2004;23:43-4.
15. Teachey DT, Seif AE, Grupp SA. Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS). Br J Haematol 2010;148:205-16.
16. Teachey D, Manno CS, Axsom KM, Andrews T, Choi JK, Greenbaum BH, McMann JM, Sullivan KE, Travis SF, Grupp SA. Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS). Blood 2005;105:2443.
17. Straus SE, Sneller M, Lenardo MJ, Puck JM, Strober W. An inherited disorder of lymphocyte apoptosis: the autoimmune lymphoproliferative syndrome. Ann Intern Med, 1999;130:591-601.
18. Sneller MC, Wang J, Dale JK, et al. Clincial, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. Blood 1997;89:1341-8.
19. Kwon SW, Procter J, Dale JK, et al. Neutrophil and platelet antibodies in autoimmune lymphoproliferative syndrome. Vox Sang 2003;85:307.
20. Straus SE, Jaffe ES, Puck JM, et al. The development of lymphomas in families with autoimmunelymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. Blood 2001;98:194-200.
21. Campagnoli MF, Garbarini L, Quarello P, et al. The broad spectrum of autoimmunelymphoproliferative disease: molecular bases, clinical features and long-term follow-up in 31 patients. Haematologica 2006;91:538-41.
22. 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.
23. Bleesing JJ, Brown MR, Straus SE, et al. Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome. Blood 2001;98:2466-73.
24. Bleesing JJ, Brown MR, Novicio C, Guarraia D, Dale JK, Straus SE, Fleisher TA. A composite picture of TcR alpha/beta(+) CD4(-)CD8(-) T Cells (alpha/beta-DNTCs) in humans with autoimmune lymphoproliferative syndrome. Clin Immunol 2002;104:21-30.
25. Bleesing JJ, Brown MR, Dale JK, et al. 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.
26. Fischer K, Voelkl S, Heymann J, et al. Isolation and characterization of human antigen-specific TCR alpha beta+ CD4(-)CD8- double-negative regulatory T cells. Blood 2005;105:2828-35.
27. Caminha I, Fleisher TA, Hornung RL, et al. Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome. J Allergy Clin Immunol 2010;125:946-9.
28. Muppidi J, Porter M, Siegel RM. Measurement of apoptosis and other forms of cell death. Curr Protoc Immunol 2004;Chapter 3:3.17.1-3.17.36.
29. Holzelova E, Vonarbourg C, Stolzenberg MC, et al. Autoimmune lymphoproliferative syndrome with somatic Fas mutations. N Engl J Med 2004;351:1409-18.
30. Rao VK, Carrasquillo JA, Straus SE, et al. Fluorodeoxyglucose positron emission tomography (FDG-PET) for monitoring lymphadenopathy in the autoimmune lymphoproliferative syndrome (ALPS). Am J Hematol 2006;81:81-5.
31. Rao VK, Price S, Perkins K, et al. Use of rituximab for refractory cytopenias associated with autoimmune lymphoproliferative syndrome (ALPS). Pediatr Blood Cancer 2009;52:847-52.
32. Cooper N, Davies EG, Thrasher AJ. Repeated courses of rituximab for autoimmune cytopenias may precipitate profound hypogammaglobulinaemia requiring replacement intravenous immunoglobulin. Br J Haematol 2009;146:120-2.
33. Rao VK, Price S, Perkins K, et al. Use of mycophenolate mofetil in children with chronic, refractory immune cytopenias associated with autoimmune lymphoproliferative syndrome (ALPS). Pediatr Blood Cancer 2009;52:697.
34. Kossiva L, Theodoridou M, Mostrou G, et al. Mycophenolate mofetil as an alternate immunosuppressor for autoimmune lymphoproliferative syndrome. J Pediatr Hematol Oncol 2006;28:824-6.
35. Teachey DT, Greiner R, Seif A, et al. Treatment with sirolimus results in complete responses in patients with autoimmune lymphoproliferative syndrome. Br J Haematol 2009;145:101-6.
36. Teachey DT, Seif AE, Brown VI, et al. Targeting Notch signaling in autoimmune and lymphoproliferative disease. Blood 2008;111:705-14.
37. Bobe P, Bonardelle D, Benihoud K, et al. Arsenic trioxide: a promising novel therapeutic agent for lymphoproliferative and autoimmune syndromes in MRL/lpr mice. Blood 2006;108:3967-75.
38. Dowdell KC, Pesnicak L, Hoffmann V, et al. Valproic acid (VPA), a histone deacetylase (HDAC) inhibitor, diminishes lymphoproliferation in the Fas deficient MRL/lpr)/) murine model of autoimmune lymphoproliferative syndrome (ALPS). Blood (ASH Annual Meeting Abstracts), 2006;108:2497.