The genetic landscape of the FAS pathway deficiencies

Canale, 1967, Chronic lymphadenopathy simulating malignant lymphoma, J Pediatr, 70, 891, 10.1016/S0022-3476(67)80262-2 Rieux-Laucat, 2018, The autoimmune lymphoproliferative syndrome with defective FAS or FAS-ligand functions, J Clin Immunol, 38, 558, 10.1007/s10875-018-0523-x Rensing-Ehl, 2014, Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency, Blood, 124, 851, 10.1182/blood-2014-03-564286 Neven, 2011, A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation, Blood, 118, 4798, 10.1182/blood-2011-04-347641 Caminha, 2010, Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome, J Allergy Clin Immunol, 125, 946, 10.1016/j.jaci.2009.12.983 Lopatin, 2001, Increases in circulating and lymphoid tissue interleukin-10 in autoimmune lymphoproliferative syndrome are associated with disease expression, Blood, 97, 3161, 10.1182/blood.V97.10.3161 Bowen, 2012, Elevated vitamin B12 levels in autoimmune lymphoproliferative syndrome attributable to elevated haptocorrin in lymphocytes, Clin Biochem, 45, 490, 10.1016/j.clinbiochem.2012.01.016 Price, 2014, Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations, Blood, 123, 1989, 10.1182/blood-2013-10-535393 Oliveira, 2007, NRAS mutation causes a human autoimmune lymphoproliferative syndrome, Proc Natl Acad Sci USA, 104, 8953, 10.1073/pnas.0702975104 Niemela, 2015, Caspase-8 deficiency presenting as late-onset multi-organ lymphocytic infiltration with granulomas in two adult siblings, J Clin Immunol, 35, 348, 10.1007/s10875-015-0150-8 Nabhani, 2017, STAT3 gain-of-function mutations associated with autoimmune lymphoproliferative syndrome like disease deregulate lymphocyte apoptosis and can be targeted by BH3 mimetic compounds, Clin Immunol, 181, 32, 10.1016/j.clim.2017.05.021 Kuehn, 2014, Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4, Science, 345, 1623, 10.1126/science.1255904 Schubert, 2014, Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations, Nat Med, 20, 1410, 10.1038/nm.3746 Lo, 2016, CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency, Blood, 128, 1037, 10.1182/blood-2016-04-712612 Hafezi, 2021, Clinical, immunological, and genetic features in 780 patients with autoimmune lymphoproliferative syndrome (ALPS) and ALPS-like diseases: a systematic review, Pediatr Allergy Immunol. Forthcoming, 10.1111/pai.13535 Casamayor-Polo, 2021, Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS), Crit Rev Clin Lab Sci, 58, 253, 10.1080/10408363.2020.1855623 Ashkenazi, 2002, Targeting death and decoy receptors of the tumour-necrosis factor superfamily, Nat Rev Cancer, 2, 420, 10.1038/nrc821 Kayagaki, 1995, Metalloproteinase-mediated release of human Fas ligand, J Exp Med, 182, 1777, 10.1084/jem.182.6.1777 Nagata, 1997, Apoptosis by death factor, Cell, 88, 355, 10.1016/S0092-8674(00)81874-7 Nagata, 1995, The Fas death factor, Science, 267, 1449, 10.1126/science.7533326 Watanabe-Fukunaga, 1992, Lymphoproliferation disorder in mice explained by defects in Fas antigen that mediates apoptosis, Nature, 356, 314, 10.1038/356314a0 Kimura, 1994, Autoimmunity in mice bearing lprcg: a novel mutant gene, Int Rev Immunol, 11, 193, 10.3109/08830189409061727 Matsuzawa, 1994, Lymphadenopathy induced by the cooperation between lprcg and gld genes is of lpr but not of gld phenotype, Eur J Immunol, 24, 1714, 10.1002/eji.1830240740 Adachi, 1996, Enhanced and accelerated lymphoproliferation in Fas-null mice, Proc Natl Acad Sci USA, 93, 2131, 10.1073/pnas.93.5.2131 Yeh, 1998, FADD: essential for embryo development and signaling from some, but not all, inducers of apoptosis, Science, 279, 1954, 10.1126/science.279.5358.1954 Varfolomeev, 1998, Targeted disruption of the mouse caspase 8 gene ablates cell death induction by the TNF receptors, fas/apo1, and DR3 and is lethal prenatally, Immunity, 9, 267, 10.1016/S1074-7613(00)80609-3 Zhang, 1998, Fas-mediated apoptosis and activation-induced T-cell proliferation are defective in mice lacking FADD/Mort1, Nature, 392, 296, 10.1038/32681 Walsh, 1998, A role for FADD in T cell activation and development, Immunity, 8, 439, 10.1016/S1074-7613(00)80549-X Newton, 1998, A dominant interfering mutant of FADD/MORT1 enhances deletion of autoreactive thymocytes and inhibits proliferation of mature T lymphocytes, EMBO J, 17, 706, 10.1093/emboj/17.3.706 Salmena, 2005, Caspase-8 deficiency in T cells leads to a lethal lymphoinfiltrative immune disorder, J Exp Med, 202, 727, 10.1084/jem.20050683 Rieux-Laucat, 1995, Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity, Science, 268, 1347, 10.1126/science.7539157 Magerus-Chatinet, 2017, In vitro evaluation of the apoptosis function in human activated T cells, Methods Mol Biol, 1557, 33, 10.1007/978-1-4939-6780-3_4 Oliveira, 2010, Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop, Blood, 116, e35, 10.1182/blood-2010-04-280347 Behrmann, 1994, Structure of the human APO-1 gene, Eur J Immunol, 24, 3057, 10.1002/eji.1830241221 Holzelova, 2004, Autoimmune lymphoproliferative syndrome with somatic Fas mutations, N Engl J Med, 351, 1409, 10.1056/NEJMoa040036 Lambotte, 2013, Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults, Haematologica, 98, 389, 10.3324/haematol.2012.067488 García García, 2015, Adult onset autoimmune lymphoproliferative syndrome due to somatic FAS mutation, Intern Med J, 45, 462, 10.1111/imj.12714 Dowdell, 2010, Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome, Blood, 115, 5164, 10.1182/blood-2010-01-263145 Magerus-Chatinet, 2011, Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation, J Clin Invest, 121, 106, 10.1172/JCI43752 Simesen de Bielke, 2012, A missense mutation in the extracellular domain of Fas: the most common change in argentinean patients with autoimmune lymphoproliferative syndrome represents a founder effect, J Clin Immunol, 32, 1197, 10.1007/s10875-012-9731-y Agrebi, 2017, Autoimmune lymphoproliferative syndrome caused by homozygous FAS mutations with normal or residual protein expression, J Allergy Clin Immunol, 140, 298, 10.1016/j.jaci.2016.11.033 Klemann, 2017, Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome, Haematologica, 102, 10.3324/haematol.2016.153411 Agrebi, 2017, Rare splicing defects of FAS underly severe recessive autoimmune lymphoproliferative syndrome, Clin Immunol, 183, 17, 10.1016/j.clim.2017.06.009 van der Burg, 2000, Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease?, Pediatr Res, 47, 336, 10.1203/00006450-200003000-00009 Sleight, 1998, Correction of autoimmune lymphoproliferative syndrome by bone marrow transplantation, Bone Marrow Transplant, 22, 375, 10.1038/sj.bmt.1701306 Benkerrou, 1997, Correction of Fas (CD95) deficiency by haploidentical bone marrow transplantation, Eur J Immunol, 27, 2043, 10.1002/eji.1830270831 Bettinardi, 1997, Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis, Blood, 89, 902, 10.1182/blood.V89.3.902 Del-Rey, 2006, A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome, Blood, 108, 1306, 10.1182/blood-2006-04-015776 Ruiz-García, 2015, Decreased activation-induced cell death by EBV-transformed B-cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation, Pediatr Res, 78, 603, 10.1038/pr.2015.170 Magerus-Chatinet, 2013, Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation, J Allergy Clin Immunol, 131, 486, 10.1016/j.jaci.2012.06.011 Nabhani, 2014, A novel homozygous Fas ligand mutation leads to early protein truncation, abrogation of death receptor and reverse signaling and a severe form of the autoimmune lymphoproliferative syndrome, Clin Immunol, 155, 231, 10.1016/j.clim.2014.10.006 Bi, 2007, Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib, BMC Med Genet, 8, 41, 10.1186/1471-2350-8-41 Wu, 1996, Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease, J Clin Invest, 98, 1107, 10.1172/JCI118892 Bolze, 2010, Whole-exome-sequencing-based discovery of human FADD deficiency, Am J Hum Genet, 87, 873, 10.1016/j.ajhg.2010.10.028 Savic, 2015, A new case of Fas-associated death domain protein deficiency and update on treatment outcomes, J Allergy Clin Immunol, 136, 502, 10.1016/j.jaci.2015.02.002 Kohn, 2020, Novel compound heterozygote variations in FADD identified to cause FAS-associated protein with death domain deficiency, J Clin Immunol, 40, 658, 10.1007/s10875-020-00779-6 Wang, 1999, Inherited human caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II, Cell, 98, 47, 10.1016/S0092-8674(00)80605-4 Puck, 2003, Immune disorders caused by defects in the caspase cascade, Curr Allergy Asthma Rep, 3, 378, 10.1007/s11882-003-0070-1 Zhu, 2006, Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome, Hum Genet, 119, 284, 10.1007/s00439-006-0138-9 Cerutti, 2007, Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome, BMC Immunol, 8, 28, 10.1186/1471-2172-8-28 Martínez-Feito, 2016, Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation, Immunobiology, 221, 40, 10.1016/j.imbio.2015.08.004 Chun, 2002, Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency, Nature, 419, 395, 10.1038/nature01063 Lehle, 2019, Intestinal inflammation and dysregulated immunity in patients with inherited caspase-8 deficiency, Gastroenterology, 156, 275, 10.1053/j.gastro.2018.09.041