{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T22:24:29Z","timestamp":1785536669171,"version":"3.56.0"},"reference-count":101,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2011,9,1]],"date-time":"2011-09-01T00:00:00Z","timestamp":1314835200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Trends in Molecular Medicine"],"published-print":{"date-parts":[[2011,9]]},"DOI":"10.1016\/j.molmed.2011.05.006","type":"journal-article","created":{"date-parts":[[2011,7,5]],"date-time":"2011-07-05T20:14:17Z","timestamp":1309896857000},"page":"494-505","source":"Crossref","is-referenced-by-count":53,"title":["Disease causing mutations in the TNF and TNFR superfamilies: Focus on molecular mechanisms driving disease"],"prefix":"10.1016","volume":"17","author":[{"given":"Adrian A.","family":"Lobito","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanit L.","family":"Gabriel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan Paul","family":"Medema","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona C.","family":"Kimberley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.molmed.2011.05.006_bib0005","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/978-0-387-89520-8_1","article-title":"Overview of TNF superfamily: a chest full of potential therapeutic targets","volume":"647","author":"Grewal","year":"2009","journal-title":"Adv. Exp. Med. Biol."},{"key":"10.1016\/j.molmed.2011.05.006_bib0010","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1016\/S0092-8674(01)00237-9","article-title":"The TNF and TNF receptor superfamilies: integrating mammalian biology","volume":"104","author":"Locksley","year":"2001","journal-title":"Cell"},{"key":"10.1016\/j.molmed.2011.05.006_bib0015","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/S1359-6101(96)00026-3","article-title":"The potential biological and clinical significance of the soluble tumor necrosis factor receptors","volume":"7","author":"Aderka","year":"1996","journal-title":"Cytokine Growth Factor Rev."},{"key":"10.1016\/j.molmed.2011.05.006_bib0020","doi-asserted-by":"crossref","first-page":"5125","DOI":"10.1182\/blood-2010-04-278465","article-title":"Somatic ALPS: a FAScinating condition","volume":"115","author":"Teachey","year":"2010","journal-title":"Blood"},{"key":"10.1016\/j.molmed.2011.05.006_bib0025","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1111\/j.1365-2141.2006.05993.x","article-title":"Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical phenotype","volume":"133","author":"Worth","year":"2006","journal-title":"Br. J. Haematol."},{"key":"10.1016\/j.molmed.2011.05.006_bib0030","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1172\/JCI115867","article-title":"A novel lymphoproliferative\/autoimmune syndrome resembling murine lpr\/gld disease","volume":"90","author":"Sneller","year":"1992","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.molmed.2011.05.006_bib0035","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1016\/0092-8674(95)90013-6","article-title":"Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome","volume":"81","author":"Fisher","year":"1995","journal-title":"Cell"},{"key":"10.1016\/j.molmed.2011.05.006_bib0040","doi-asserted-by":"crossref","first-page":"1347","DOI":"10.1126\/science.7539157","article-title":"Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity","volume":"268","author":"Rieux-Laucat","year":"1995","journal-title":"Science"},{"key":"10.1016\/j.molmed.2011.05.006_bib0045","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1007\/400_2008_24","article-title":"Many checkpoints on the road to cell death: regulation of Fas-FasL interactions and Fas signaling in peripheral immune responses","volume":"49","author":"Ramaswamy","year":"2009","journal-title":"Results Probl. Cell Differ."},{"key":"10.1016\/j.molmed.2011.05.006_bib0050","doi-asserted-by":"crossref","first-page":"e35","DOI":"10.1182\/blood-2010-04-280347","article-title":"Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop","volume":"116","author":"Oliveira","year":"2010","journal-title":"Blood"},{"key":"10.1016\/j.molmed.2011.05.006_bib0055","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1203\/00006450-200003000-00009","article-title":"Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease?","volume":"3","author":"van der Burg","year":"2000","journal-title":"Pediatric Res."},{"key":"10.1016\/j.molmed.2011.05.006_bib0060","doi-asserted-by":"crossref","first-page":"902","DOI":"10.1182\/blood.V89.3.902","article-title":"Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis","volume":"89","author":"Bettinardi","year":"1997","journal-title":"Blood"},{"key":"10.1016\/j.molmed.2011.05.006_bib0065","doi-asserted-by":"crossref","first-page":"4552","DOI":"10.1073\/pnas.96.8.4552","article-title":"Defective CD95\/APO-1\/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia","volume":"96","author":"Martin","year":"1999","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.molmed.2011.05.006_bib0070","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1093\/intimm\/10.2.195","article-title":"Novel Fas (CD95\/APO-1) mutations in infants with a lymphoproliferative disorder","volume":"10","author":"Kasahara","year":"1998","journal-title":"Int. Immunol."},{"key":"10.1016\/j.molmed.2011.05.006_bib0075","doi-asserted-by":"crossref","first-page":"1652","DOI":"10.1182\/blood-2004-08-3104","article-title":"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\u2032 splice site AG in CD95 intron 5 on one allele","volume":"106","author":"Roesler","year":"2005","journal-title":"Blood"},{"key":"10.1016\/j.molmed.2011.05.006_bib0080","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1172\/JCI5121","article-title":"The molecular basis for apoptotic defects in patients with CD95 (Fas\/Apo-1) mutations","volume":"103","author":"Vaishnaw","year":"1999","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.molmed.2011.05.006_bib0085","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.cyto.2007.03.005","article-title":"Three is better than one: pre-ligand receptor assembly in the regulation of TNF receptor signaling","volume":"37","author":"Chan","year":"2007","journal-title":"Cytokine"},{"key":"10.1016\/j.molmed.2011.05.006_bib0090","doi-asserted-by":"crossref","first-page":"1324","DOI":"10.1038\/nsmb.1920","article-title":"The Fas-FADD death domain complex structure reveals the basis of DISC assembly and disease mutations","volume":"17","author":"Wang","year":"2010","journal-title":"Nat. Struct. Mol. Biol."},{"key":"10.1016\/j.molmed.2011.05.006_bib0095","doi-asserted-by":"crossref","first-page":"2354","DOI":"10.1126\/science.288.5475.2354","article-title":"Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations","volume":"288","author":"Siegel","year":"2000","journal-title":"Science"},{"key":"10.1016\/j.molmed.2011.05.006_bib0100","doi-asserted-by":"crossref","first-page":"1306","DOI":"10.1182\/blood-2006-04-015776","article-title":"A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome","volume":"108","author":"Del-Rey","year":"2006","journal-title":"Blood"},{"key":"10.1016\/j.molmed.2011.05.006_bib0105","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1172\/JCI118892","article-title":"Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease","volume":"98","author":"Wu","year":"1996","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.molmed.2011.05.006_bib0110","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1186\/1471-2350-8-41","article-title":"Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) type Ib","volume":"2","author":"Bi","year":"2007","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.molmed.2011.05.006_bib0115","doi-asserted-by":"crossref","first-page":"5164","DOI":"10.1182\/blood-2010-01-263145","article-title":"Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome","volume":"115","author":"Dowdell","year":"2010","journal-title":"Blood"},{"key":"10.1016\/j.molmed.2011.05.006_bib0120","doi-asserted-by":"crossref","first-page":"1409","DOI":"10.1056\/NEJMoa040036","article-title":"Autoimmune lymphoproliferative syndrome with somatic Fas mutations","volume":"351","author":"Holzelova","year":"2004","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.molmed.2011.05.006_bib0510","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1172\/JCI43752","article-title":"Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation","volume":"121","author":"Magerus-Chatinet","year":"2011","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.molmed.2011.05.006_bib0130","first-page":"469","article-title":"Familial Hibernian fever","volume":"51","author":"Williamson","year":"1982","journal-title":"Q. J. Med."},{"key":"10.1016\/j.molmed.2011.05.006_bib0135","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1186\/ar2197","article-title":"Falling into TRAPS\u2013receptor misfolding in the TNF receptor 1-associated periodic fever syndrome","volume":"9","author":"Kimberley","year":"2007","journal-title":"Arthritis Res. Ther."},{"key":"10.1016\/j.molmed.2011.05.006_bib0140","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/S0092-8674(00)80721-7","article-title":"Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes","volume":"97","author":"McDermott","year":"1999","journal-title":"Cell"},{"key":"10.1016\/j.molmed.2011.05.006_bib0145","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/sj.cdd.4401189","article-title":"Tumor necrosis factor signaling","volume":"10","author":"Wajant","year":"2003","journal-title":"Cell Death Differ."},{"key":"10.1016\/j.molmed.2011.05.006_bib0150","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1016\/j.immuni.2004.10.001","article-title":"Life and death decisions: secondary complexes and lipid rafts in TNF receptor family signal transduction","volume":"21","author":"Muppidi","year":"2004","journal-title":"Immunity"},{"key":"10.1016\/j.molmed.2011.05.006_bib0155","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1097\/00005792-200209000-00002","article-title":"The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder","volume":"81","author":"Hull","year":"2002","journal-title":"Medicine (Baltimore)"},{"key":"10.1016\/j.molmed.2011.05.006_bib0160","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1086\/321976","article-title":"The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers","volume":"69","author":"Aksentijevich","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.molmed.2011.05.006_bib0165","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1038\/sj.ejhg.5201344","article-title":"Unexpected high frequency of P46L TNFRSF1A allele in sub-Saharan West African populations","volume":"13","author":"Tchernitchko","year":"2005","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.molmed.2011.05.006_bib0170","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1002\/art.23123","article-title":"Abnormal tumor necrosis factor receptor I cell surface expression and NF-kappaB activation in tumor necrosis factor receptor-associated periodic syndrome","volume":"58","author":"Nedjai","year":"2008","journal-title":"Arthritis Rheum."},{"key":"10.1016\/j.molmed.2011.05.006_bib0175","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1136\/ard.2007.078667","article-title":"A novel TNFRSF1A splice mutation associated with increased nuclear factor kappaB (NF-kappaB) transcription factor activation in patients with tumour necrosis factor receptor associated periodic syndrome (TRAPS)","volume":"67","author":"Churchman","year":"2008","journal-title":"Ann. Rheum. Dis."},{"key":"10.1016\/j.molmed.2011.05.006_bib0180","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1002\/art.20955","article-title":"Reduced tumor necrosis factor signaling in primary human fibroblasts containing a tumor necrosis factor receptor superfamily 1A mutant","volume":"52","author":"Siebert","year":"2005","journal-title":"Arthritis Rheum."},{"key":"10.1016\/j.molmed.2011.05.006_bib0185","doi-asserted-by":"crossref","first-page":"1320","DOI":"10.1182\/blood-2005-11-006783","article-title":"Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS)","volume":"108","author":"Lobito","year":"2006","journal-title":"Blood"},{"key":"10.1016\/j.molmed.2011.05.006_bib0190","doi-asserted-by":"crossref","first-page":"5193","DOI":"10.1016\/j.febslet.2005.08.037","article-title":"Mutation of the extracellular domain of tumour necrosis factor receptor 1 causes reduced NF-kappaB activation due to decreased surface expression","volume":"579","author":"Siebert","year":"2005","journal-title":"FEBS Lett."},{"key":"10.1016\/j.molmed.2011.05.006_bib0195","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1080\/03009740310004892","article-title":"A novel tumour necrosis factor receptor mutation in a Finnish family with periodic fever syndrome","volume":"33","author":"Stjernberg-Salmela","year":"2004","journal-title":"Scand. J. Rheumatol."},{"key":"10.1016\/j.molmed.2011.05.006_bib0200","doi-asserted-by":"crossref","first-page":"9801","DOI":"10.1073\/pnas.0914118107","article-title":"Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome","volume":"107","author":"Simon","year":"2010","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.molmed.2011.05.006_bib0205","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1002\/art.21657","article-title":"Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications","volume":"54","author":"D\u2019Osualdo","year":"2006","journal-title":"Arthritis Rheum."},{"key":"10.1016\/j.molmed.2011.05.006_bib0210","doi-asserted-by":"crossref","first-page":"2651","DOI":"10.1002\/art.20380","article-title":"Shedding of mutant tumor necrosis factor receptor superfamily 1A associated with tumor necrosis factor receptor-associated periodic syndrome: differences between cell types","volume":"50","author":"Huggins","year":"2004","journal-title":"Arthritis Rheum."},{"key":"10.1016\/j.molmed.2011.05.006_bib0215","doi-asserted-by":"crossref","first-page":"2674","DOI":"10.1002\/art.21964","article-title":"Modeling of tumor necrosis factor receptor superfamily 1A mutants associated with tumor necrosis factor receptor-associated periodic syndrome indicates misfolding consistent with abnormal function","volume":"54","author":"Rebelo","year":"2006","journal-title":"Arthritis Rheum."},{"key":"10.1016\/j.molmed.2011.05.006_bib0220","doi-asserted-by":"crossref","first-page":"2765","DOI":"10.1002\/art.22740","article-title":"Mutant tumor necrosis factor receptor associated with tumor necrosis factor receptor-associated periodic syndrome is altered antigenically and is retained within patients\u2019 leukocytes","volume":"56","author":"Todd","year":"2007","journal-title":"Arthritis Rheum."},{"key":"10.1016\/j.molmed.2011.05.006_bib0225","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1084\/jem.20102049","article-title":"Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS)","volume":"208","author":"Bulua","year":"2011","journal-title":"J. Exp. Med."},{"key":"10.1016\/j.molmed.2011.05.006_bib0230","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1016\/j.cell.2004.12.041","article-title":"Reactive oxygen species promote TNFalpha-induced death and sustained JNK activation by inhibiting MAP kinase phosphatases","volume":"120","author":"Kamata","year":"2005","journal-title":"Cell"},{"key":"10.1016\/j.molmed.2011.05.006_bib0235","doi-asserted-by":"crossref","first-page":"1292","DOI":"10.1136\/ard.2007.079376","volume":"67","author":"Stojanov","year":"2008","journal-title":"Ann. Rheum. Dis."},{"key":"10.1016\/j.molmed.2011.05.006_bib0240","doi-asserted-by":"crossref","first-page":"1516","DOI":"10.1002\/art.23475","article-title":"Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome","volume":"58","author":"Gattorno","year":"2008","journal-title":"Arthritis Rheum."},{"key":"10.1016\/j.molmed.2011.05.006_bib0245","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1038\/ng1600","article-title":"Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans","volume":"37","author":"Salzer","year":"2005","journal-title":"Nat. Genet."},{"key":"10.1016\/j.molmed.2011.05.006_bib0250","doi-asserted-by":"crossref","first-page":"1967","DOI":"10.1182\/blood-2008-02-141937","article-title":"Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes","volume":"113","author":"Salzer","year":"2009","journal-title":"Blood"},{"key":"10.1016\/j.molmed.2011.05.006_bib0255","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1111\/j.1365-2249.2007.03461.x","article-title":"Translational mini-review series on immunodeficiency: molecular defects in common variable immunodeficiency","volume":"149","author":"Bacchelli","year":"2007","journal-title":"Clin. Exp. Immunol."},{"key":"10.1016\/j.molmed.2011.05.006_bib0260","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1038\/35010115","article-title":"TACI and BCMA are receptors for a TNF homologue implicated in B-cell autoimmune disease","volume":"404","author":"Gross","year":"2000","journal-title":"Nature"},{"key":"10.1016\/j.molmed.2011.05.006_bib0265","doi-asserted-by":"crossref","first-page":"7276","DOI":"10.4049\/jimmunol.179.11.7276","article-title":"Regulated expression of BAFF-binding receptors during human B cell differentiation","volume":"179","author":"Darce","year":"2007","journal-title":"J. Immunol."},{"key":"10.1016\/j.molmed.2011.05.006_bib0270","doi-asserted-by":"crossref","first-page":"1004","DOI":"10.1182\/blood-2007-09-110874","article-title":"TACI, unlike BAFF-R, is solely activated by oligomeric BAFF and APRIL to support survival of activated B cells and plasmablasts","volume":"111","author":"Bossen","year":"2008","journal-title":"Blood"},{"key":"10.1016\/j.molmed.2011.05.006_bib0275","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1126\/science.278.5335.138","article-title":"NF-AT activation induced by a CAML-interacting member of the tumor necrosis factor receptor superfamily","volume":"278","author":"von Bulow","year":"1997","journal-title":"Science"},{"key":"10.1016\/j.molmed.2011.05.006_bib0280","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1038\/89790","article-title":"Activation and accumulation of B cells in TACI-deficient mice","volume":"2","author":"Yan","year":"2001","journal-title":"Nat. Immunol."},{"key":"10.1016\/j.molmed.2011.05.006_bib0285","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1084\/jem.20032000","article-title":"TACI and BAFF-R mediate isotype switching in B cells","volume":"201","author":"Castigli","year":"2005","journal-title":"J. Exp. Med."},{"key":"10.1016\/j.molmed.2011.05.006_bib0290","doi-asserted-by":"crossref","first-page":"1234","DOI":"10.1016\/j.jaci.2010.08.017","article-title":"The C104R mutant impairs the function of transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) through haploinsufficiency","volume":"126","author":"Lee","year":"2010","journal-title":"J. Allergy Clin. Immunol."},{"key":"10.1016\/j.molmed.2011.05.006_bib0295","doi-asserted-by":"crossref","first-page":"1550","DOI":"10.1172\/JCI31023","article-title":"Dominant-negative effect of the heterozygous C104R TACI mutation in common variable immunodeficiency (CVID)","volume":"117","author":"Garibyan","year":"2007","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.molmed.2011.05.006_bib0300","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1016\/j.humimm.2010.02.002","article-title":"Phenotypic and clinical heterogeneity associated with monoallelic TNFRSF13B-A181E mutations in common variable immunodeficiency","volume":"71","author":"Dong","year":"2010","journal-title":"Hum. Immunol."},{"key":"10.1016\/j.molmed.2011.05.006_bib0305","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1038\/ni.1914","article-title":"The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88","volume":"11","author":"He","year":"2010","journal-title":"Nat. Immunol."},{"key":"10.1016\/j.molmed.2011.05.006_bib0310","doi-asserted-by":"crossref","first-page":"2254","DOI":"10.1182\/blood-2008-11-189720","article-title":"The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function","volume":"114","author":"Lee","year":"2009","journal-title":"Blood"},{"key":"10.1016\/j.molmed.2011.05.006_bib0315","doi-asserted-by":"crossref","first-page":"1980","DOI":"10.1002\/ajmg.a.32864","article-title":"Ectodermal dysplasias: clinical and molecular review","volume":"149A","author":"Visinoni","year":"2009","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.molmed.2011.05.006_bib0320","doi-asserted-by":"crossref","first-page":"1555","DOI":"10.1086\/316914","article-title":"A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)","volume":"67","author":"Zonana","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.molmed.2011.05.006_bib0325","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1038\/85837","article-title":"X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling","volume":"27","author":"Doffinger","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.molmed.2011.05.006_bib0330","doi-asserted-by":"crossref","first-page":"18819","DOI":"10.1074\/jbc.M101280200","article-title":"Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A","volume":"276","author":"Schneider","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.molmed.2011.05.006_bib0335","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1177\/154405910808701205","article-title":"Dento-craniofacial phenotypes and underlying molecular mechanisms in hypohidrotic ectodermal dysplasia (HED): a review","volume":"87","author":"Clauss","year":"2008","journal-title":"J. Dent. Res."},{"key":"10.1016\/j.molmed.2011.05.006_bib0340","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1126\/science.290.5491.523","article-title":"Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors","volume":"290","author":"Yan","year":"2000","journal-title":"Science"},{"key":"10.1016\/j.molmed.2011.05.006_bib0345","doi-asserted-by":"crossref","first-page":"1608","DOI":"10.1128\/MCB.24.4.1608-1613.2004","article-title":"Myodegeneration in EDA-A2 transgenic mice is prevented by XEDAR deficiency","volume":"24","author":"Newton","year":"2004","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.molmed.2011.05.006_bib0350","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.devcel.2009.05.011","article-title":"Reciprocal requirements for EDA\/EDAR\/NF-kappaB and Wnt\/beta-catenin signaling pathways in hair follicle induction","volume":"17","author":"Zhang","year":"2009","journal-title":"Dev. Cell"},{"key":"10.1016\/j.molmed.2011.05.006_bib0355","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1038\/sj.ejhg.5200635","article-title":"Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia","volume":"9","author":"Vincent","year":"2001","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.molmed.2011.05.006_bib0360","doi-asserted-by":"crossref","first-page":"7218","DOI":"10.1073\/pnas.131076098","article-title":"Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia","volume":"98","author":"Chen","year":"2001","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.molmed.2011.05.006_bib0365","doi-asserted-by":"crossref","first-page":"27567","DOI":"10.1074\/jbc.M109.042259","article-title":"Biological activity of ectodysplasin A is conditioned by its collagen and heparan sulfate proteoglycan-binding domains","volume":"284","author":"Swee","year":"2009","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.molmed.2011.05.006_bib0370","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1111\/j.1399-0004.2010.01376.x","article-title":"X-linked and autosomal recessive hypohidrotic ectodermal dysplasia: genotypic-dental phenotypic findings from a retrospective study of 24 families","volume":"78","author":"Clauss","year":"2010","journal-title":"Clin. Genet."},{"key":"10.1016\/j.molmed.2011.05.006_bib0375","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1002\/humu.20295","article-title":"Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia","volume":"27","author":"Chassaing","year":"2006","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.molmed.2011.05.006_bib0380","doi-asserted-by":"crossref","first-page":"2351","DOI":"10.1126\/science.288.5475.2351","article-title":"A domain in TNF receptors that mediates ligand-independent receptor assembly and signaling","volume":"288","author":"Chan","year":"2000","journal-title":"Science"},{"key":"10.1016\/j.molmed.2011.05.006_bib0385","doi-asserted-by":"crossref","first-page":"18099","DOI":"10.1073\/pnas.0507329102","article-title":"Preligand assembly domain-mediated ligand-independent association between TRAIL receptor 4 (TR4) and TR2 regulates TRAIL-induced apoptosis","volume":"102","author":"Clancy","year":"2005","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.molmed.2011.05.006_bib0390","doi-asserted-by":"crossref","first-page":"1634","DOI":"10.1126\/science.1071924","article-title":"TNF-R1 signaling: a beautiful pathway","volume":"296","author":"Chen","year":"2002","journal-title":"Science"},{"key":"10.1016\/j.molmed.2011.05.006_bib0395","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/S0092-8674(03)00521-X","article-title":"Induction of TNF receptor I-mediated apoptosis via two sequential signaling complexes","volume":"114","author":"Micheau","year":"2003","journal-title":"Cell"},{"key":"10.1016\/j.molmed.2011.05.006_bib0515","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/978-1-4419-6612-4_12","article-title":"The linear ubiquitin chain assembly complex forms part of the TNF-R1 signaling complex and is required for effective TNF-induced gene induction and prevents TNF-induced apoptosis","volume":"691","author":"Emmerich","year":"2011","journal-title":"Adv. Exp. Med. Biol."},{"key":"10.1016\/j.molmed.2011.05.006_bib0405","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1016\/0092-8674(95)90071-3","article-title":"FADD, a novel death domain-containing protein, interacts with the death domain of Fas and initiates apoptosis","volume":"81","author":"Chinnaiyan","year":"1995","journal-title":"Cell"},{"key":"10.1016\/j.molmed.2011.05.006_bib0410","doi-asserted-by":"crossref","DOI":"10.1002\/0471142735.im1109ds87","article-title":"TRAF-mediated TNFR-family signaling","volume":"11","author":"Ha","year":"2009","journal-title":"Curr. Protoc. Immunol."},{"key":"10.1016\/j.molmed.2011.05.006_bib0415","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.immuni.2008.01.009","article-title":"TRAF2 and TRAF3 signal adapters act cooperatively to control the maturation and survival signals delivered to B cells by the BAFF receptor","volume":"28","author":"Gardam","year":"2008","journal-title":"Immunity"},{"key":"10.1016\/j.molmed.2011.05.006_bib0420","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1016\/j.molcel.2009.10.013","article-title":"Recruitment of the linear ubiquitin chain assembly complex stabilizes the TNF-R1 signaling complex and is required for TNF-mediated gene induction","volume":"36","author":"Haas","year":"2009","journal-title":"Mol. Cell"},{"key":"10.1016\/j.molmed.2011.05.006_bib0425","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/S0968-0004(01)01995-8","article-title":"The molecular architecture of the TNF superfamily","volume":"27","author":"Bodmer","year":"2002","journal-title":"Trends Biochem. Sci."},{"issue":"Suppl. 1","key":"10.1016\/j.molmed.2011.05.006_bib0430","doi-asserted-by":"crossref","first-page":"i50","DOI":"10.1136\/ard.59.suppl_1.i50","article-title":"The pre-ligand binding assembly domain: a potential target of inhibition of tumour necrosis factor receptor function","volume":"59","author":"Chan","year":"2000","journal-title":"Ann. Rheum. Dis."},{"key":"10.1016\/j.molmed.2011.05.006_bib0435","doi-asserted-by":"crossref","first-page":"23","DOI":"10.2165\/00063030-200721010-00004","article-title":"Tumor necrosis factor receptor pre-ligand assembly domain is an important therapeutic target in inflammatory arthritis","volume":"21","author":"Deng","year":"2007","journal-title":"BioDrugs"},{"key":"10.1016\/j.molmed.2011.05.006_bib0440","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/s00431-004-1563-1","article-title":"Etanercept plus colchicine treatment in a child with tumour necrosis factor receptor-associated periodic syndrome abolishes auto-inflammatory episodes without normalising the subclinical acute phase response","volume":"164","author":"Arostegui","year":"2005","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.molmed.2011.05.006_bib0445","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1002\/art.30215","article-title":"Role of interleukin-6 (IL-6) in a patient with TRAPS revealed by treatment with tocilizumab (anti-IL-6 receptor monoclonal antibody)","volume":"63","author":"Vaitla","year":"2011","journal-title":"Arthritis Rheum."},{"key":"10.1016\/j.molmed.2011.05.006_bib0450","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1111\/j.1365-2141.2009.07991.x","article-title":"Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS)","volume":"148","author":"Teachey","year":"2010","journal-title":"Br. J. Haematol."},{"key":"10.1016\/j.molmed.2011.05.006_bib0455","doi-asserted-by":"crossref","first-page":"1965","DOI":"10.1182\/blood-2006-01-010124","article-title":"Rapamycin improves lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome (ALPS)","volume":"108","author":"Teachey","year":"2006","journal-title":"Blood"},{"key":"10.1016\/j.molmed.2011.05.006_bib0460","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1002\/pbc.22151","article-title":"Rapid regression of lymphadenopathy upon rapamycin treatment in a child with autoimmune lymphoproliferative syndrome","volume":"53","author":"Janic","year":"2009","journal-title":"Pediatr. Blood Cancer"},{"key":"10.1016\/j.molmed.2011.05.006_bib0465","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1111\/j.1365-2141.2009.07595.x","article-title":"Treatment with sirolimus results in complete responses in patients with autoimmune lymphoproliferative syndrome","volume":"145","author":"Teachey","year":"2009","journal-title":"Br. J. Haematol."},{"key":"10.1016\/j.molmed.2011.05.006_bib0470","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1038\/ng1601","article-title":"TACI is mutant in common variable immunodeficiency and IgA deficiency","volume":"37","author":"Castigli","year":"2005","journal-title":"Nat. Genet."},{"key":"10.1016\/j.molmed.2011.05.006_bib0475","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.jaut.2005.04.006","article-title":"Treatment and outcome of autoimmune hematologic disease in common variable immunodeficiency (CVID)","volume":"25","author":"Wang","year":"2005","journal-title":"J. Autoimmun."},{"key":"10.1016\/j.molmed.2011.05.006_bib0480","first-page":"1688","article-title":"Nucleotide substitution in the ectodomain of trail receptor DR4 is associated with lung cancer and head and neck cancer","volume":"7","author":"Fisher","year":"2001","journal-title":"Clin. Cancer Res."},{"key":"10.1016\/j.molmed.2011.05.006_bib0485","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1053\/gast.2001.28663","article-title":"Inactivating mutations of KILLER\/DR5 gene in gastric cancers","volume":"121","author":"Park","year":"2001","journal-title":"Gastroenterology"},{"key":"10.1016\/j.molmed.2011.05.006_bib0490","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1007\/s00223-008-9177-7","article-title":"Clinical and biochemical response of TNFRSF11A-mediated early-onset familial Paget disease to bisphosphonate therapy","volume":"83","author":"Riches","year":"2008","journal-title":"Calcif. Tissue Int."},{"key":"10.1016\/j.molmed.2011.05.006_bib0495","first-page":"325","article-title":"Mild autosomal recessive osteopetrosis: successful treatment with bone marrow transplant","volume":"64","author":"Othman","year":"2009","journal-title":"Med. J. Malaysia"},{"key":"10.1016\/j.molmed.2011.05.006_bib0500","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1056\/NEJMoa050893","article-title":"Recombinant osteoprotegerin for juvenile Paget's disease","volume":"353","author":"Cundy","year":"2005","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.molmed.2011.05.006_bib0505","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1097\/01.md.0000100046.06009.b0","article-title":"The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients","volume":"82","author":"Winkelstein","year":"2003","journal-title":"Medicine (Baltimore)"}],"container-title":["Trends in Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1471491411000839?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1471491411000839?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,6,21]],"date-time":"2020-06-21T04:41:43Z","timestamp":1592714503000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1471491411000839"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,9]]},"references-count":101,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2011,9]]}},"alternative-id":["S1471491411000839"],"URL":"https:\/\/doi.org\/10.1016\/j.molmed.2011.05.006","relation":{},"ISSN":["1471-4914"],"issn-type":[{"value":"1471-4914","type":"print"}],"subject":[],"published":{"date-parts":[[2011,9]]}}}