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Current Clinical Practice

Causes and consequences of the autoimmune lymphoproliferative syndrome

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Pages 15-23 | Published online: 04 Sep 2013

References

  • 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;89:1341–1348.
  • 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.
  • Rioux JD, Abbas AK. Paths to understanding the genetic basis of autoimmune disease. Nature 2005 Jun 2;435(7042): 584–589.
  • Yonehara S, Ishii A, Yonehara M. A cell-killing monoclonal antibody (anti-Fas) to a cell surface antigen co-downregulated with the receptor of tumor necrosis factor. J Exp Med 1989;169(5):1747–1756.
  • Lenardo MJ. Introduction: The molecular regulation of lymphocyte apoptosis. Sem in Immunol 1997;9:1–5.
  • Debatin K, Stahne K, Fulda S, et al. Apoptosis in hema-tological disorders. Sem in Cancer Biol 2003;:149–158.
  • Siegel RM, Muppidi JR, Sarker M, Lobito A, Jen M, Martin D, Straus SE, Lenardo MJ. SPOTS: Signaling protein oligomeric transduction structures are early mediators of death receptor-induced apoptosis at the plasma membrane. J Cell Biol 2004;167:735–744.
  • 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;356:314–317.
  • Cohen PL, Eisenberg RA:. Lpr and gld: Single gene models of systemic autoimmunity and lymphoproliferative disease. Ann Rev Immunol 1991;9:243–269.
  • Sneller MC, Straus SE, Jaffe ES, Jaffe JS, Fleisher TA, Stetler-Stevenson M, et al. A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease. J Chin Invest 1992;90:334–341.
  • 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;81:935–946.
  • Rieux-Laucat F, Blachere S, Danielan S, De Villartay JP, Oleastro M, Solary E, Bader-Meunier B, Arkwright P, Pondare C, Bernaudin F, Chapel H, Nielsen S, Berrah M, Fischer A, Le Deist F. Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations. Blood 1999;94:2575–2582.
  • Canale VC, Smith CH. Chronic lymphadenopathy simulating malignant lymphoma. J Pediatr 1967;70:891–899.
  • 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;98:47–58.
  • 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: 395–399.
  • van der Werff ten Bosch JE, Otten J, Thielemans K. Autoimmune lymphoproliferative syndrome type III: An indefinite disorder. Leuk lymphoma 2001;41:55–65.
  • Puck JM, Straus SE. Somatic mutations — not just for cancer anymore (Perspective). NEJM 2004;351:1388–1390.
  • Holzelova E, Vonarbourg C, Stolzenberg MC, et al. Auto-immune lymphoproliferative syndrome with somatic Fas mutations. NEJM 2004;351:1409–14194.
  • Sneller MC, Dale JK, Straus SE. Autoimmune lymphoproliferative syndrome. Curr Opin Rheumatol 2003;15:417–421.
  • Avila NA, Dwyer AJ, Dale JK, Lopatin UA, Sneller MC, Jaffe ES, et al. Autoimmune lymphoproliferative syndrome: A syndrome associated with inherited genetic defects that impair lymphocytic apoptosis — CT and US features. Radiology 1999;212:257–263.
  • Teachey DT, 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;105:2443–2448.
  • Maric I, Pittaluga S, Dale JK, Niemela JE, Delsol G, Diment J, Rosai J, Raffeld M, Puck JM, Straus SE, Jaffe E. Histologic Features of Sinus Histiocytosis With Massive Lymphadenopathy in Patients With Autoimmune Lympho-proliferative Syndrome. Am J Surg Pathol 2005 Jul;29(7):903–911.
  • Bleesing JJ, Brown MR, Straus SE, Dale JK, Siegel RM, Johnson M, Lenardo MJ, Puck JM, Fleisher TA. Immuno-phenotypic profiles in families with autoimmune lymphopro-liferative syndrome. Blood 2001;98:2466–2473.
  • 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;153:1541–1550.
  • Fuss IJ, Strober W, Dale JK, Fritz S, Pearlstein GR, Puck JM, et al. Characteristic T helper 2 T cell cytokine abnormalities in autoimmune lymphoproliferative syndrome, a syndrome marked by defective apoptosis and humoral autoimmunity. J Immunol 1997158:1912-1918.
  • Stroncek DF, Carter LB, Procter JL, Dale JK, Straus SE. RBC autoantibodies in autoimmune lymphoproliferative syndrome. Transfusion 2001;41:18–23.
  • Kwon SW, Procter J, Dale JK, Straus SE, Stroncek DF. Neutrophil and platelet antibodies in autoimmune lympho-proliferative syndrome. Vox Sang 2003;85:307–312.
  • Fang BS, Sneller MC, Straus SE, Frenkel L, Dale JK, Rick ME. Report of a factor VIII inhibitor in a patient with autoimmune lymphoproliferative syndrome. Am J Hematol 2000;64:214–217.
  • Aspinall Al, Pinto A, Auer IA, Bridges P, Luider J, Dimnik L, et al. Identification of new Fas mutations in a patient with autoimmune lymphoproliferative syndrome (ALPS) and eosinophilia. Blood Cells Mol Dis 1999;25:227–238.
  • Bader-Munier B, Rieux-Laucat F, et al. Dyserythropoiesis associated with a fas-deficient condition in childhood. Br J Hematol 2000;108:300–304.
  • Jackson CE, Puck JM. Autoimmune lymphoproliferative syndrome, a disorder of apoptosis. Curr Opin Pediatr 1999;6:521–527.
  • 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;81:935–946.
  • 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 SE. Increases in circulating and lymphoid tissue interleukin-10 in autoimmune lymphoproliferative syndrome are associated with disease expression. Blood 2001 May 15;97(10): 3161–3170.
  • Straus SE, Jaffe ES, Puck JM, Dale JK, Elkon KB, et al. The development of lymphomas in families with Autoimmune Lymphoproliferative Syndrome (ALPS) with germline Fas mutations and defective lymphocyte apoptosis. Blood 2001;98:194–200.
  • Poppema S, Maggio E, van den Berg A. Development of lymphoma in ALPS and its relationship to Fas gene mutations. Leuk Lymphoma 2004;45:423–431.
  • Muschen M, Warskulat U, Beckmann MW. Defining CD95 as a tumor suppressor gene. J Mol Med 2000;78: 312–325.
  • Muschen M, Re D, Brauninger A, Wolf J, Hansmann ML, Diehl V, Kuppers R, Rajewsky K. Somatic mutations of the CD95 gene in Hodgkin and Reed-Sternberg cells. Cancer Res 2000;60:5640–5643.
  • Shin MS, Kim HS, Kang CS, et al. Inactivating mutations of CAS P10 gene in non-Hodgkin lymphomas. Blood 2002;99:4094–4099.
  • van der Werff ten Bosch JE, Demanet C, Balduck N, Bakkus MH, De Raeve H, Desprechins B, et al. Reversion of autoimmune lymphoproliferative syndrome with an antima-larial drug: Preliminary results of a clinical cohort study and molecular observations. Br J Haematol 2002;117:176–188.
  • Lutwick L. Infections in asplenic patients. From principles and practice of infectious diseases. 6th ed. In: Mandell, Douglas, Bennett, editors. Elsevier Churchill Livingstone; Philadelphia, PA: 2005. p 3524–3535.
  • Heelan BT, Tormey V, Amlot P, Payne E, Mehta A, Webster AD. Effect of anti-CD20 (rituximab) on resistant thrombocy-topenia in autoimmune lymphoproliferative syndrome. Br J Haematol 2002;118:1078–1081.
  • Rao VK, Dale J, Hurley H, Dugan F, Tretler J, Straus SE. Use of mycophenolate mofetil in Children with chronic, refractory immune cytopenias associated with autoimmune lymphopro-liferative syndrome (ALPS). Br J Haemat 2005; 129:534–538.
  • Lucignani G, Paganelli G, Bomabardieri E. The use of standardized uptake values for assessing FDG uptake with PET in oncology: A clinical perspective. Nucl Med Commun 2004;25:651–656.
  • Burton C, Ell P, Linch D. The role of PET imaging in lymphoma. Br J Haematol 2004;126:772–784.
  • 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;27: 2043–2047.
  • Sleight BJ, Prasad VS, DeLaat C, Steele P, Ballard E, Arceci RJ, et al. Correction of autoimmune lymphoproliferative syndrome by bone marrow transplantation. Bone Marrow Transplant 1998;22:375–380.
  • 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 lymphopro-liferative syndrome with defective Fas: Genotype influences penetrance. Am J Hum Genet 1999;64:1002–1014.
  • van der Burg M, de Groot R, Comans-Bitter WM, den Hollander JC, Hooijkaas H, Neijens HJ, Berger RM, Oranje AP, Langerak AW, van Dongen H. Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: A dominant or recessive disease? Pediatr Res 2000;47: 336–343.
  • Rieux-Laucat F, Deist FL, Fischer A. Autoimmune lympho-proliferative syndromes: Genetic defects of apoptosis pathways (Review). Cell Death Differ 2003;10:124–133.
  • Cines D, Bussel JB. How I Treat: ITP. Blood Jun 7 2005; [Epub ahead of print].

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