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Volumn 24, Issue 1, 2012, Pages 1-8

New advances in the diagnosis and treatment of autoimmune lymphoproliferative syndrome

Author keywords

autoimmune lymphoproliferative syndrome; cytopenias; Evans syndrome; FAS; mTOR; RAS; secondary malignancy

Indexed keywords

FAS ANTIGEN; MYCOPHENOLIC ACID 2 MORPHOLINOETHYL ESTER; RAPAMYCIN; RITUXIMAB;

EID: 84856097321     PISSN: 10408703     EISSN: 1531698X     Source Type: Journal    
DOI: 10.1097/MOP.0b013e32834ea739     Document Type: Review
Times cited : (86)

References (58)
  • 1
    • 0037279111 scopus 로고    scopus 로고
    • Autoimmune lymphoproliferative syndromes: Genetic defects of apoptosis pathways
    • DOI 10.1038/sj.cdd.4401190
    • Rieux-Laucat F, Le Deist F, Fischer A. Autoimmune lymphoproliferative syndromes: genetic defects of apoptosis pathways. Cell Death Differ 2003; 10:124-133. (Pubitemid 36511838)
    • (2003) Cell Death and Differentiation , vol.10 , Issue.1 , pp. 124-133
    • Rieux-Laucat, F.1    Le Deist, F.2    Fischer, A.3
  • 2
    • 0028927607 scopus 로고
    • The fas death factor
    • Nagata S, Golstein P. The Fas death factor. Science 1995; 267:1449-1456.
    • (1995) Science , vol.267 , pp. 1449-1456
    • Nagata, S.1    Golstein, P.2
  • 3
    • 0026758658 scopus 로고
    • A novel lymphoproliferative autoimmune syndrome resembling murine lpr gld disease
    • Sneller MC, Straus SE, Jaffe ES, et al. A novel lymphoproliferative/ autoimmune syndrome resembling murine lpr/gld disease. J Clin Invest 1992; 90:334-341.
    • (1992) J. Clin. Invest , vol.90 , pp. 334-341
    • Sneller, M.C.1    Straus, S.E.2    Jaffe, E.S.3
  • 4
    • 0029025441 scopus 로고
    • Dominant interfering fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome
    • Fisher GH, Rosenberg FJ, Straus SE, et al. Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell 1995; 81:935-946.
    • (1995) Cell , vol.81 , pp. 935-946
    • Fisher, G.H.1    Rosenberg, F.J.2    Straus, S.E.3
  • 5
    • 0029006893 scopus 로고
    • Mutations in fas associated with human lymphoproliferative syndrome and autoimmunity
    • Rieux-Laucat F, Le Deist F, Hivroz C, et al. Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science 1995; 268:1347-1349.
    • (1995) Science , vol.268 , pp. 1347-1349
    • Rieux-Laucat, F.1    Le Deist, F.2    Hivroz, C.3
  • 6
    • 0036317579 scopus 로고    scopus 로고
    • Autoimmune lymphoproliferative syndrome: A genetic disorder of abnormal lymphocyte apoptosis
    • Bleesing JJ. Autoimmune lymphoproliferative syndrome: a genetic disorder of abnormal lymphocyte apoptosis. Immunol Allergy Clin North Am 2002; 22:339-349.
    • (2002) Immunol. Allergy Clin. North Am. , vol.22 , pp. 339-349
    • Bleesing, J.J.1
  • 7
    • 77957746866 scopus 로고    scopus 로고
    • Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome ALPS: Report from the 2009 NIH International workshop
    • This article is an international consensus statement from experts in ALPS that defines a new diagnostic algorithm for ALPS and revises the nomenclature
    • Oliveira JB, Bleesing JJ, Dianzani U, et al. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood 2010; 116:e35-e40. This article is an international consensus statement from experts in ALPS that defines a new diagnostic algorithm for ALPS and revises the nomenclature.
    • (2010) Blood , vol.116
    • Oliveira, J.B.1    Bleesing, J.J.2    Dianzani, U.3
  • 8
    • 72649096618 scopus 로고    scopus 로고
    • Advances in the management and understanding of autoimmune lymphoproliferative syndrome ALPS
    • Teachey DT, Seif AE, Grupp SA. Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS). Br J Haematol 2010; 148:205-216.
    • (2010) Br. J. Haematol. , vol.148 , pp. 205-216
    • Teachey, D.T.1    Seif, A.E.2    Grupp, S.A.3
  • 9
    • 79956199669 scopus 로고    scopus 로고
    • FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome
    • This article establishes that FAS haploinsufficiency is an important disease mechanism in ALPS
    • Kuehn HS, Caminha I, Niemela JE, et al. FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome. J Immunol 2011; 186:6035-6043. This article establishes that FAS haploinsufficiency is an important disease mechanism in ALPS.
    • (2011) J. Immunol. , vol.186 , pp. 6035-6043
    • Kuehn, H.S.1    Caminha, I.2    Niemela, J.E.3
  • 13
    • 64049096371 scopus 로고    scopus 로고
    • FAS-L IL-10 and double-negative CD4-CD8-TCR alpha beta T cells are reliable markers of autoimmune lymphoproliferative syndrome ALPS associated with FAS loss of function
    • This article provides evidence that biomarkers can be used to predict ALPS
    • Magerus-Chatinet A, Stolzenberg MC, Loffredo MS, et al. FAS-L, IL-10, and double-negative CD4-CD8-TCR alpha/beta T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function. Blood 2009; 113:3027-3030. This article provides evidence that biomarkers can be used to predict ALPS.
    • (2009) Blood , vol.113 , pp. 3027-3030
    • Magerus-Chatinet, A.1    Stolzenberg, M.C.2    Loffredo, M.S.3
  • 16
    • 0035412359 scopus 로고    scopus 로고
    • The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis
    • Straus SE, Jaffe ES, Puck JM, et al. The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. Blood 2001; 98:194-200.
    • (2001) Blood , vol.98 , pp. 194-200
    • Straus, S.E.1    Jaffe, E.S.2    Puck, J.M.3
  • 17
    • 78650948664 scopus 로고    scopus 로고
    • Onset of autoimmune lymphoproliferative syndrome ALPS in humans as a consequence of genetic defect accumulation
    • This article establishes that a combination of multiple mutations acquired and inherited in ALPS causative genes may help explain low disease penetrance in families
    • Magerus-Chatinet A, Neven B, Stolzenberg MC, et al. Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation. J Clin Invest 2011; 121:106-112. This article establishes that a combination of multiple mutations (acquired and inherited) in ALPS causative genes may help explain low disease penetrance in families.
    • (2011) J. Clin. Invest , vol.121 , pp. 106-112
    • Magerus-Chatinet, A.1    Neven, B.2    Stolzenberg, M.C.3
  • 18
    • 0037232382 scopus 로고    scopus 로고
    • Autoimmune lymphoproliferative syndrome: Etiology diagnosis and management
    • Van der Werff ten Bosch J. Autoimmune lymphoproliferative syndrome: etiology, diagnosis, and management. Paediatr Drugs 2003; 5:185-193.
    • (2003) Paediatr. Drugs , vol.5 , pp. 185-193
    • Van Der Werff Ten Bosch, J.1
  • 19
    • 0037241764 scopus 로고    scopus 로고
    • Autoimmune lymphoproliferative syndrome ALPS
    • Bleesing JJ. Autoimmune lymphoproliferative syndrome (ALPS). Curr Pharm Des 2003; 9:265-278.
    • (2003) Curr. Pharm. Des. , vol.9 , pp. 265-278
    • Bleesing, J.J.1
  • 20
    • 34548590302 scopus 로고    scopus 로고
    • Rituximab responsive immune thrombocytopenic purpura in an adult with underlying autoimmune lymphoproliferative syndrome due to a splice-site mutation (IVS7+2 T>C) affecting the Fas gene
    • DOI 10.1111/j.1600-0609.2007.00924.x
    • Wei A, Cowie T. Rituximab responsive immune thrombocytopenic purpura in an adult with underlying autoimmune lymphoproliferative syndrome due to a splice-site mutation (IVS72 T>C) affecting the Fas gene. Eur J Haematol 2007; 79:363-366. (Pubitemid 47390134)
    • (2007) European Journal of Haematology , vol.79 , Issue.4 , pp. 363-366
    • Wei, A.1    Cowie, T.2
  • 21
    • 0032754167 scopus 로고    scopus 로고
    • Autoimmune lymphoproliferative syndrome a disorder of apoptosis
    • Jackson CE, Puck JM. Autoimmune lymphoproliferative syndrome, a disorder of apoptosis. Curr Opin Pediatr 1999; 11:521-527.
    • (1999) Curr. Opin. Pediatr. , vol.11 , pp. 521-527
    • Jackson, C.E.1    Puck, J.M.2
  • 23
    • 33645067636 scopus 로고    scopus 로고
    • Autoimmune lymphoproliferative syndrome: Molecular basis of disease and clinical phenotype
    • Worth A, Thrasher AJ, Gaspar HB. Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical phenotype. Br J Haematol 2006; 133:124-140.
    • (2006) Br. J. Haematol. , vol.133 , pp. 124-140
    • Worth, A.1    Thrasher, A.J.2    Gaspar, H.B.3
  • 24
    • 1042280346 scopus 로고    scopus 로고
    • Development of lymphoma in Autoimmune Lymphoproliferative Syndrome (ALPS) and its relationship to Fas gene mutations
    • DOI 10.1080/10428190310001593166
    • Poppema S, Maggio E, van den Berg A. Development of lymphoma in autoimmune lymphoproliferative syndrome (ALPS) and its relationship to Fas gene mutations. Leuk Lymphoma 2004; 45:423-431. (Pubitemid 38196023)
    • (2004) Leukemia and Lymphoma , vol.45 , Issue.3 , pp. 423-431
    • Poppema, S.1    Maggio, E.2    Van Den Berg, A.3
  • 28
    • 77950368803 scopus 로고    scopus 로고
    • Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome
    • e946 This article provides evidence that biomarkers can predict ALPS
    • 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- 949, e946. This article provides evidence that biomarkers can predict ALPS.
    • (2010) J. Allergy Clin. Immunol. , vol.125 , pp. 946-949
    • Caminha, I.1    Fleisher, T.A.2    Hornung, R.L.3
  • 29
    • 77950416383 scopus 로고    scopus 로고
    • Identifying autoimmune lymphoproliferative syndrome in children with evans syndrome: A multiinstitutional study
    • This article demonstrates that ALPS is underdiagnosed as patients with presumed idiopathic autoimmune cytopenia syndromes may have ALPS
    • Seif AE, Manno CS, Sheen C, et al. Identifying autoimmune lymphoproliferative syndrome in children with Evans syndrome: a multiinstitutional study. Blood 2010; 115:2142-2145. This article demonstrates that ALPS is underdiagnosed, as patients with presumed idiopathic autoimmune cytopenia syndromes may have ALPS.
    • (2010) Blood , vol.115 , pp. 2142-2145
    • Seif, A.E.1    Manno, C.S.2    Sheen, C.3
  • 30
    • 18544383460 scopus 로고    scopus 로고
    • Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency
    • Chun HJ, Zheng L, Ahmad M, et al. Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. Nature 2002; 419:395-399.
    • (2002) Nature , vol.419 , pp. 395-399
    • Chun, H.J.1    Zheng, L.2    Ahmad, M.3
  • 32
    • 70349678683 scopus 로고    scopus 로고
    • Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency
    • Snow AL, Marsh RA, Krummey SM, et al. Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency. J Clin Invest 2009; 119:2976-2989.
    • (2009) J. Clin. Invest , vol.119 , pp. 2976-2989
    • Snow, A.L.1    Marsh, R.A.2    Krummey, S.M.3
  • 33
    • 79953113625 scopus 로고    scopus 로고
    • Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis
    • Niemela JE, Lu L, Fleisher TA, et al. Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis. Blood 2010; 117:2883-2886.
    • (2010) Blood , vol.117 , pp. 2883-2886
    • Niemela, J.E.1    Lu, L.2    Fleisher, T.A.3
  • 35
    • 79953124749 scopus 로고    scopus 로고
    • Autoimmune lymphoproliferative syndromelike disease with somatic KRAS mutation
    • Takagi M, Shinoda K, Piao J, et al. Autoimmune lymphoproliferative syndromelike disease with somatic KRAS mutation. Blood 2010; 117:2887-2890.
    • (2010) Blood , vol.117 , pp. 2887-2890
    • Takagi, M.1    Shinoda, K.2    Piao, J.3
  • 36
    • 36148987255 scopus 로고    scopus 로고
    • Increased lymphocyte Fas expression and high incidence of common variable immunodeficiency disorder in childhood Evans' syndrome
    • DOI 10.1016/j.clim.2007.08.010, PII S1521661607013174
    • Savasan S, Warrier I, Buck S, et al. Increased lymphocyte Fas expression and high incidence of common variable immunodeficiency disorder in childhood Evans' syndrome. Clin Immunol 2007; 125:224-229. (Pubitemid 350116712)
    • (2007) Clinical Immunology , vol.125 , Issue.3 , pp. 224-229
    • Savasan, S.1    Warrier, I.2    Buck, S.3    Kaplan, J.4    Ravindranath, Y.5
  • 37
    • 7844250226 scopus 로고
    • Primary thrombocytopenic purpura and acquired hemolytic anemia evidence for a common etiology
    • Evans RS, Takahashi K, Duane RT, et al. Primary thrombocytopenic purpura and acquired hemolytic anemia; evidence for a common etiology. AMA Arch Intern Med 1951; 87:48-65.
    • (1951) AMA Arch. Intern. Med. , vol.87 , pp. 48-65
    • Evans, R.S.1    Takahashi, K.2    Duane, R.T.3
  • 38
    • 79955725634 scopus 로고    scopus 로고
    • New insights into childhood autoimmune hemolytic anemia: A french national observational study of 265 children
    • Aladjidi N, Leverger G, Leblanc T, et al. New insights into childhood autoimmune hemolytic anemia: a French national observational study of 265 children. Haematologica 2011; 96:655-663.
    • (2011) Haematologica , vol.96 , pp. 655-663
    • Aladjidi, N.1    Leverger, G.2    Leblanc, T.3
  • 39
    • 0034536284 scopus 로고    scopus 로고
    • Autoimmune lymphoproliferative syndrome: A human disorder of abnormal lymphocyte survival
    • Bleesing JJ, Straus SE, Fleisher TA. Autoimmune lymphoproliferative syndrome. A human disorder of abnormal lymphocyte survival. Pediatr Clin North Am 2000; 47:1291-1310. (Pubitemid 32005030)
    • (2000) Pediatric Clinics of North America , vol.47 , Issue.6 , pp. 1291-1310
    • Bleesing, J.J.H.1    Straus, S.E.2    Fleisher, T.A.3
  • 40
    • 67650496601 scopus 로고    scopus 로고
    • Use of rituximab for refractory cytopenias associated with autoimmune lymphoproliferative syndrome ALPS
    • Rao VK, Price S, Perkins K, et al. Use of rituximab for refractory cytopenias associated with autoimmune lymphoproliferative syndrome (ALPS). Pediatr Blood Cancer 2009; 52:847-852.
    • (2009) Pediatr. Blood Cancer , vol.52 , pp. 847-852
    • Rao, V.K.1    Price, S.2    Perkins, K.3
  • 41
    • 66949121390 scopus 로고    scopus 로고
    • Repeated courses of rituximab for autoimmune cytopenias may precipitate profound hypogammaglobulinaemia requiring replacement intravenous immunoglobulin
    • 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; 146:120-122.
    • (2009) Br. J. Haematol. , vol.146 , pp. 120-122
    • Cooper, N.1    Davies, E.G.2    Thrasher, A.J.3
  • 42
    • 82155183373 scopus 로고    scopus 로고
    • How i treat autoimmune lymphoproliferative syndrome
    • Epub ahead of print this article establishes the risk of postsplenectomy sepsis in ALPS
    • Rao VK, Oliveira JB. How I treat autoimmune lymphoproliferative syndrome. Blood 2011. [Epub ahead of print] This article establishes the risk of postsplenectomy sepsis in ALPS.
    • (2011) Blood
    • Rao, V.K.1    Oliveira, J.B.2
  • 43
    • 80855128784 scopus 로고    scopus 로고
    • A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation
    • This article establishes the risk of postsplenectomy sepsis in ALPS
    • Neven B, Magerus-Chatinet A, Florkin B, et al. A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation. Blood 2011; 118:4798-4807. This article establishes the risk of postsplenectomy sepsis in ALPS.
    • (2011) Blood , vol.118 , pp. 4798-4807
    • Neven, B.1    Magerus-Chatinet, A.2    Florkin, B.3
  • 46
    • 79960709813 scopus 로고    scopus 로고
    • PI3K AKT inhibition elicits actin-independent and CD95-dependent apoptotic signaling through localisation of CD95 into lipid rafts
    • Pizon M, Rampanarivo H, Tauzin SB, Chaigne-Delalande B, et al. PI3K/AKT inhibition elicits actin-independent and CD95-dependent apoptotic signaling through localisation of CD95 into lipid rafts. Eur J Immunol 2011; 41:2368-2378.
    • (2011) Eur. J. Immunol. , vol.41 , pp. 2368-2378
    • Pizon, M.1    Rampanarivo, H.2    Tauzin, S.B.3    Chaigne-Delalande, B.4
  • 47
    • 69449101369 scopus 로고    scopus 로고
    • Increased interleukin-10 production without expansion of CD4CD25 T-regulatory cells in early stable renal transplant patients on calcineurin inhibitors
    • Mittal SK, Sharma RK, Gupta A, Naik S. Increased interleukin-10 production without expansion of CD4CD25 T-regulatory cells in early stable renal transplant patients on calcineurin inhibitors. Transplantation 2009; 88:435-441.
    • (2009) Transplantation , vol.88 , pp. 435-441
    • Mittal, S.K.1    Sharma, R.K.2    Gupta, A.3    Naik, S.4
  • 50
    • 67349217332 scopus 로고    scopus 로고
    • Rapamycin enhances LPS induction of tissue factor and tumor necrosis factor-alpha expression in macrophages by reducing IL-10 expression
    • Baker AK, Wang R, Mackman N, Luyendyk JP. Rapamycin enhances LPS induction of tissue factor and tumor necrosis factor-alpha expression in macrophages by reducing IL-10 expression. Mol Immunol 2009; 46: 2249-2255.
    • (2009) Mol. Immunol. , vol.46 , pp. 2249-2255
    • Baker, A.K.1    Wang, R.2    Mackman, N.3    Luyendyk, J.P.4
  • 51
    • 56749156696 scopus 로고    scopus 로고
    • The PI3K Akt mTOR pathway in innate immune cells: Emerging therapeutic applications
    • Weichhart T, Saemann MD. The PI3K/Akt/mTOR pathway in innate immune cells: emerging therapeutic applications. Ann Rheum Dis 2008; 67 (Suppl. 3):iii70-iii74.
    • (2008) Ann. Rheum. Dis. , vol.67 , Issue.3
    • Weichhart, T.1    Saemann, M.D.2
  • 54
    • 61949157161 scopus 로고    scopus 로고
    • Treatment with sirolimus results in complete responses in patients with autoimmune lymphoproliferative syndrome
    • 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; 145:101-106.
    • (2009) Br. J. Haematol. , vol.145 , pp. 101-106
    • Teachey, D.T.1    Greiner, R.2    Seif, A.3
  • 55
    • 79953254487 scopus 로고    scopus 로고
    • Autoimmune lymphoproliferative syndrome: New approaches to diagnosis and management
    • Teachey DT. Autoimmune lymphoproliferative syndrome: new approaches to diagnosis and management. Clin Adv Hematol Oncol 2011; 9:233-235.
    • (2011) Clin. Adv. Hematol. Oncol. , vol.9 , pp. 233-235
    • Teachey, D.T.1
  • 56
    • 71049178335 scopus 로고    scopus 로고
    • Rapid regression of lymphadenopathy upon rapamycin treatment in a child with autoimmune lymphoproliferative syndrome
    • Janic MD, Brasanac CD, Jankovic JS, et al. Rapid regression of lymphadenopathy upon rapamycin treatment in a child with autoimmune lymphoproliferative syndrome. Pediatr Blood Cancer 2009; 53:1117-1119.
    • (2009) Pediatr. Blood Cancer , vol.53 , pp. 1117-1119
    • Janic, M.D.1    Brasanac, C.D.2    Jankovic, J.S.3
  • 57
    • 84856097216 scopus 로고    scopus 로고
    • Immunomodulatory drugs in autoimmune lymphoproliferative syndrome ALPS
    • Epub ahead of print
    • Tommasini A, Valencic E, Piscianz E, Rabusin M. Immunomodulatory drugs in autoimmune lymphoproliferative syndrome (ALPS). Pediatr Blood Cancer 2011. [Epub ahead of print]
    • (2011) Pediatr. Blood Cancer
    • Tommasini, A.1    Valencic, E.2    Piscianz, E.3    Rabusin, M.4
  • 58
    • 34548700597 scopus 로고    scopus 로고
    • Rapamycin: Something old, something new, sometimes borrowed and now renewed
    • DOI 10.1038/sj.clpt.6100317, PII 6100317
    • Hartford CM, Ratain MJ. Rapamycin: something old, something new, sometimes borrowed and now renewed. Clin Pharmacol Ther 2007; 82: 381-388. (Pubitemid 47414349)
    • (2007) Clinical Pharmacology and Therapeutics , vol.82 , Issue.4 , pp. 381-388
    • Hartford, C.M.1    Ratain, M.J.2


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