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REFERENCES Seif AE, Manno CS, Sheen C, et al. Identifying autoimmune lymphoproliferative syndrome in children with Evans syndrome: a multi-institutional study. Blood 2010; 115:2142. Bleesing JJ. Autoimmune lymphoproliferative syndrome (ALPS). Curr Pharm Des 2003; 9:265. 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. Madkaikar M, Mhatre S, Gupta M, Ghosh K. Advances in autoimmune lymphoproliferative syndromes. Eur J Haematol 2011; 87:1. Rieux-Laucat F, Le Deist F, Hivroz C, et al. Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science 1995; 268:1347. Le Deist F, Emile JF, Rieux-Laucat F, et al. Clinical, immunological, and pathological consequences of Fas-deficient conditions. Lancet 1996; 348:719. Kasahara Y, Wada T, Niida Y, et al. Novel Fas (CD95/APO-1) mutations in infants with a lymphoproliferative disorder. Int Immunol 1998; 10:195. van der Burg M, de Groot R, Comans-Bitter WM, et al. Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease? Pediatr Res 2000; 47:336. Holzelova E, Vonarbourg C, Stolzenberg MC, et al. Autoimmune lymphoproliferative syndrome with somatic Fas mutations. N Engl J Med 2004; 351:1409. Bleesing JJ. Sorting out the causes of ALPS. J Pediatr 2005; 147:571. Rössler J, Enders A, Lahr G, et al. Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome. J Pediatr 2005; 147:691. Dowdell KC, Niemela JE, Price S, et al. Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. Blood 2010; 115:5164. Wu J, Wilson J, He J, et al. Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease. J Clin Invest 1996; 98:1107. Annual meeting of the Clinical Immunology Society (CIS), 1999. Del-Rey M, Ruiz-Contreras J, Bosque A, et al. A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome. Blood 2006; 108:1306. Bi LL, Pan G, Atkinson TP, et al. 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.

Del-Rey M, Ruiz-Contreras J, Bosque A, et al. A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome. Blood 2006; 108:1306. Bi LL, Pan G, Atkinson TP, et al. 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. Magerus-Chatinet A, Stolzenberg MC, Lanzarotti N, et al. Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation. J Allergy Clin Immunol 2013; 131:486. Zhu S, Hsu AP, Vacek MM, et al. Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. Hum Genet 2006; 119:284. 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. Bleesing JJ, Brown MR, Straus SE, et al. Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome. Blood 2001; 98:2466. Roesler J, Izquierdo JM, Ryser M, et al. Haploinsufficiency, rather than the effect of an excessive production of soluble CD95 (CD95{Delta}TM), is the basis for ALPS Ia in a family with duplicated 3' splice site AG in CD95 intron 5 on one allele. Blood 2005; 106:1652. 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. Infante AJ, Britton HA, DeNapoli T, et al. The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis. J Pediatr 1998; 133:629. Jackson CE, Fischer RE, Hsu AP, et al. Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. Am J Hum Genet 1999; 64:1002. Rieux-Laucat F, Blachère S, Danielan S, et al. Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations. Blood 1999; 94:2575. Le Deist F, Fischer A. Autoimmune lymphoproliferative syndrome. (2001). file://www.orpha.net (Accessed on March 17, 2009).

Jackson CE, Fischer RE, Hsu AP, et al. Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. Am J Hum Genet 1999; 64:1002. Rieux-Laucat F, Blachère S, Danielan S, et al. Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations. Blood 1999; 94:2575. Le Deist F, Fischer A. Autoimmune lymphoproliferative syndrome. (2001). file://www.orpha.net (Accessed on March 17, 2009). Martin DA, Zheng L, Siegel RM, et al. Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia. Proc Natl Acad Sci U S A 1999; 96:4552. Siegel RM, Frederiksen JK, Zacharias DA, et al. Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations. Science 2000; 288:2354. Hymowitz SG, Dixit VM. Unleashing cell death: the Fas-FADD complex. Nat Struct Mol Biol 2010; 17:1289. 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. Topic 16361 Version 5.0 © 2013 UpToDate, Inc. All rights reserved. | Subscription and License Agreement | Release: 21.4 - C21.36 Licensed to: Southeast Alabama Med Ctr | Support Tag: [1104-122.72.80.101-002C802214-S244013.14]