{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T14:56:48Z","timestamp":1793717808378,"version":"4.6.1"},"reference-count":123,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2020,4,15]],"date-time":"2020-04-15T00:00:00Z","timestamp":1586908800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,4,15]],"date-time":"2020-04-15T00:00:00Z","timestamp":1586908800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100002136","name":"Histiocytosis Association","doi-asserted-by":"publisher","award":["pilot grant"],"award-info":[{"award-number":["pilot grant"]}],"id":[{"id":"10.13039\/100002136","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010327","name":"Cincinnati Children's Research Foundation","doi-asserted-by":"publisher","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}],"id":[{"id":"10.13039\/100010327","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Genes Immun"],"published-print":{"date-parts":[[2020,5]]},"DOI":"10.1038\/s41435-020-0098-4","type":"journal-article","created":{"date-parts":[[2020,4,14]],"date-time":"2020-04-14T23:03:13Z","timestamp":1586905393000},"page":"169-181","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":93,"title":["The genetics of macrophage activation syndrome"],"prefix":"10.1038","volume":"21","author":[{"given":"Grant S.","family":"Schulert","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Randy Q.","family":"Cron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,4,15]]},"reference":[{"key":"98_CR1","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1146\/annurev-med-061813-012806","volume":"66","author":"GS Schulert","year":"2015","unstructured":"Schulert GS, Grom AA. Pathogenesis of macrophage activation syndrome and potential for cytokine- directed therapies. Annu Rev Med. 2015;66:145\u201359.","journal-title":"Annu Rev Med"},{"key":"98_CR2","doi-asserted-by":"publisher","first-page":"119","DOI":"10.3389\/fimmu.2019.00119","volume":"10","author":"CB Crayne","year":"2019","unstructured":"Crayne CB, Albeituni S, Nichols KE, Cron RQ. The immunology of macrophage activation syndrome. Front Immunol. 2019;10:119.","journal-title":"Front Immunol"},{"key":"98_CR3","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1093\/intimm\/dxy012","volume":"30","author":"GS Schulert","year":"2018","unstructured":"Schulert GS, Canna SW. Convergent pathways of the hyperferritinemic syndromes. Int Immunol. 2018;30:195\u2013203.","journal-title":"Int Immunol"},{"key":"98_CR4","doi-asserted-by":"publisher","first-page":"2672","DOI":"10.1182\/blood-2016-01-690636","volume":"127","author":"J-F Emile","year":"2016","unstructured":"Emile J-F, Abla O, Fraitag S, Horne A, Haroche J, Donadieu J, et al. Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages. Blood. 2016;127:2672\u201381.","journal-title":"Blood"},{"key":"98_CR5","doi-asserted-by":"publisher","unstructured":"Nikiforow S, Berliner N. To \u201clump\u201d or to \u201csplit\u201d in macrophage activation syndrome and hemophagocytic lymphohistiocytosis. Arthritis Rheumatol. 2019. https:\/\/doi.org\/10.1002\/art.41106.","DOI":"10.1002\/art.41106"},{"key":"98_CR6","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1186\/s12969-016-0130-4","volume":"15","author":"C Bracaglia","year":"2017","unstructured":"Bracaglia C, Prencipe G, De Benedetti F. Macrophage activation syndrome: different mechanisms leading to a one clinical syndrome. Pediatr Rheumatol. 2017;15:5.","journal-title":"Pediatr Rheumatol"},{"key":"98_CR7","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1093\/rheumatology\/key006","volume":"58","author":"SJ Carter","year":"2019","unstructured":"Carter SJ, Tattersall RS, Ramanan AV. Macrophage activation syndrome in adults: recent advances in pathophysiology, diagnosis and treatment. Rheumatology. 2019;58:5\u201317.","journal-title":"Rheumatology"},{"key":"98_CR8","doi-asserted-by":"publisher","first-page":"4577","DOI":"10.1182\/blood-2011-06-356261","volume":"118","author":"H Trottestam","year":"2011","unstructured":"Trottestam H, Horne A, Aric\u00f2 M, Egeler RM, Filipovich AH, Gadner H, et al. Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol. Blood. 2011;118:4577\u201384.","journal-title":"Blood"},{"key":"98_CR9","first-page":"1324","volume":"16","author":"A Cascio","year":"2012","unstructured":"Cascio A, Pernice LM, Barberi G, Delfino D, Biondo C, Beninati C, et al. Secondary hemophagocytic lymphohistiocytosis in zoonoses. A systematic review. Eur Rev Med Pharm Sci. 2012;16:1324\u201337.","journal-title":"Eur Rev Med Pharm Sci"},{"key":"98_CR10","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1002\/rmv.638","volume":"20","author":"NR Maakaroun","year":"2010","unstructured":"Maakaroun NR, Moanna A, Jacob JT, Albrecht H. Viral infections associated with haemophagocytic syndrome. Rev Med Virol. 2010;20:93\u2013105.","journal-title":"Rev Med Virol"},{"key":"98_CR11","doi-asserted-by":"publisher","first-page":"513","DOI":"10.1097\/PCC.0000000000001122","volume":"18","author":"JA Carcillo","year":"2017","unstructured":"Carcillo JA, Halstead ES, Hall MW, Nguyen TC, Reeder R, Aneja R, et al. Three hypothetical inflammation pathobiology phenotypes and pediatric sepsis-induced multiple organ failure outcome*. Pediatr Crit Care Med. 2017;18:513\u201323.","journal-title":"Pediatr Crit Care Med"},{"key":"98_CR12","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1097\/CCM.0000000000001402","volume":"44","author":"B Shakoory","year":"2016","unstructured":"Shakoory B, Carcillo JA, Chatham WW, Amdur RL, Zhao H, Dinarello CA, et al. Interleukin-1 receptor blockade is associated with reduced mortality in sepsis patients with features of macrophage activation syndrome: reanalysis of a prior phase III trial. Crit Care Med. 2016;44:275\u201381.","journal-title":"Crit Care Med"},{"key":"98_CR13","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1097\/PCC.0000000000002105","volume":"20","author":"JA Carcillo","year":"2019","unstructured":"Carcillo JA, Berg RA, Wessel D, Pollack M, Meert K, Hall M, et al. A multicenter network assessment of three inflammation phenotypes in pediatric sepsis-induced multiple organ failure. Pediatr Crit Care Med. 2019;20:1.","journal-title":"Pediatr Crit Care Med"},{"key":"98_CR14","doi-asserted-by":"crossref","unstructured":"Crayne C, Cron RQ. Pediatric macrophage activation syndrome, recognizing the tip of the Iceberg. Eur J Rheumatol. 2019;1\u20138. [Epub ahead of print].","DOI":"10.5152\/eurjrheum.2019.19150"},{"key":"98_CR15","doi-asserted-by":"publisher","first-page":"3160","DOI":"10.1002\/art.38802","volume":"66","author":"F Minoia","year":"2014","unstructured":"Minoia F, Dav\u00ec S, Horne A, Demirkaya E, Bovis F, Li C, et al. Clinical features, treatment, and outcome of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis: a multinational, multicenter study of 362 patients. Arthritis Rheumatol. 2014;66:3160\u20139.","journal-title":"Arthritis Rheumatol"},{"key":"98_CR16","doi-asserted-by":"publisher","first-page":"761","DOI":"10.3899\/jrheum.121233","volume":"40","author":"R Strippoli","year":"2013","unstructured":"Strippoli R, Caiello I, De Benedetti F. Reaching the threshold: a multilayer pathogenesis of macrophage activation syndrome. J Rheumatol. 2013;40:761\u20137.","journal-title":"J Rheumatol"},{"key":"98_CR17","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1016\/j.pcl.2012.03.002","volume":"59","author":"SW Canna","year":"2012","unstructured":"Canna SW, Behrens EM. Making sense of the cytokine storm: a conceptual framework for understanding, diagnosing, and treating hemophagocytic syndromes. Pediatr Clin North Am. 2012;59:329\u201344.","journal-title":"Pediatr Clin North Am"},{"key":"98_CR18","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1097\/MOP.0b013e32834ec9c1","volume":"24","author":"K Risma","year":"2012","unstructured":"Risma K, Jordan MB. Hemophagocytic lymphohistiocytosis. Curr Opin Pediatr. 2012;24:9\u201315.","journal-title":"Curr Opin Pediatr"},{"key":"98_CR19","doi-asserted-by":"publisher","first-page":"1078","DOI":"10.3899\/jrheum.150108","volume":"42","author":"RQ Cron","year":"2015","unstructured":"Cron RQ, Behrens EM, Shakoory B, Ramanan AV, Chatham WW. Does viral hemorrhagic fever represent reactive hemophagocytic syndrome? J Rheumatol. 2015;42:1078\u201380.","journal-title":"J Rheumatol"},{"key":"98_CR20","doi-asserted-by":"publisher","first-page":"5794","DOI":"10.1182\/blood-2011-07-370148","volume":"118","author":"K Zhang","year":"2011","unstructured":"Zhang K, Jordan MB, Marsh RA, Johnson JA, Kissell D, Meller J, et al. Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. Blood. 2011;118:5794\u20138.","journal-title":"Blood"},{"key":"98_CR21","doi-asserted-by":"publisher","first-page":"5041","DOI":"10.4049\/jimmunol.1500774","volume":"194","author":"EM Behrens","year":"2015","unstructured":"Behrens EM, Cron RQ. Kill or be killed. J Immunol. 2015;194:5041\u20133.","journal-title":"J Immunol"},{"key":"98_CR22","doi-asserted-by":"publisher","first-page":"1957","DOI":"10.1126\/science.286.5446.1957","volume":"286","author":"SE Stepp","year":"1999","unstructured":"Stepp SE, Dufourcq-Lagelouse R, Le Deist F, Bhawan S, Certain S, Mathew PA, et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science. 1999;286:1957\u20139.","journal-title":"Science"},{"key":"98_CR23","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1146\/annurev-med-041610-134208","volume":"63","author":"GE Janka","year":"2012","unstructured":"Janka GE. Familial and acquired hemophagocytic lymphohistiocytosis. Annu Rev Med. 2012;63:233\u201346.","journal-title":"Annu Rev Med"},{"key":"98_CR24","doi-asserted-by":"publisher","first-page":"1608","DOI":"10.3390\/ijms18081608","volume":"18","author":"R Willenbring","year":"2017","unstructured":"Willenbring R, Johnson A. Finding a balance between protection and pathology: the dual role of perforin in human disease. Int J Mol Sci. 2017;18:1608.","journal-title":"Int J Mol Sci"},{"key":"98_CR25","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1084\/jem.20140964","volume":"212","author":"MR Jenkins","year":"2015","unstructured":"Jenkins MR, Rudd-Schmidt JA, Lopez JA, Ramsbottom KM, Mannering SI, Andrews DM, et al. Failed CTL\/NK cell killing and cytokine hypersecretion are directly linked through prolonged synapse time. J Exp Med. 2015;212:307\u201317.","journal-title":"J Exp Med"},{"key":"98_CR26","doi-asserted-by":"publisher","first-page":"2492","DOI":"10.4049\/jimmunol.1501284","volume":"196","author":"M Zhang","year":"2016","unstructured":"Zhang M, Bracaglia C, Prencipe G, Bemrich-Stolz CJ, Beukelman T, Dimmitt RA, et al. A heterozygous RAB27A mutation associated with delayed cytolytic granule polarization and hemophagocytic lymphohistiocytosis. J Immunol. 2016;196:2492\u2013503.","journal-title":"J Immunol"},{"key":"98_CR27","first-page":"1133","volume":"34","author":"EM Behrens","year":"2007","unstructured":"Behrens EM, Beukelman T, Paessler M, Cron RQ. Occult macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis. J Rheumatol. 2007;34:1133\u20138.","journal-title":"J Rheumatol"},{"key":"98_CR28","doi-asserted-by":"publisher","first-page":"965","DOI":"10.1002\/art.22416","volume":"56","author":"J Bleesing","year":"2007","unstructured":"Bleesing J, Prada A, Siegel DM, Villanueva J, Olson J, Ilowite NT, et al. The diagnostic significance of soluble CD163 and soluble interleukin-2 receptor alpha-chain in macrophage activation syndrome and untreated new-onset systemic juvenile idiopathic arthritis. Arthritis Rheum. 2007;56:965\u201371.","journal-title":"Arthritis Rheum"},{"key":"98_CR29","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1067\/mpd.2003.110","volume":"142","author":"AA Grom","year":"2003","unstructured":"Grom AA, Villanueva J, Lee S, Goldmuntz EA, Passo MH, Filipovich A. Natural killer cell dysfunction in patients with systemic-onset juvenile rheumatoid arthritis and macrophage activation syndrome. J Pediatr. 2003;142:292\u20136.","journal-title":"J Pediatr"},{"key":"98_CR30","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1203\/00006450-199810000-00001","volume":"44","author":"KE Sullivan","year":"1998","unstructured":"Sullivan KE, Delaat CA, Douglas SD, Filipovich AH. Defective natural killer cell function in patients with hemophagocytic lymphohistiocytosis and in first degree relatives. Pediatr Res. 1998;44:465\u20138.","journal-title":"Pediatr Res"},{"key":"98_CR31","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1093\/rheumatology\/kep418","volume":"49","author":"SJ Vastert","year":"2010","unstructured":"Vastert SJ, van Wijk R, D\u2019Urbano LE, de Vooght KM, de Jager W, Ravelli A, et al. Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis. Rheumatol. 2010;49:441\u20139.","journal-title":"Rheumatol"},{"key":"98_CR32","doi-asserted-by":"publisher","first-page":"2892","DOI":"10.1002\/art.23734","volume":"58","author":"K Zhang","year":"2008","unstructured":"Zhang K, Biroschak J, Glass DN, Thompson SD, Finkel T, Passo MH, et al. Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms. Arthritis Rheum. 2008;58:2892\u20136.","journal-title":"Arthritis Rheum"},{"key":"98_CR33","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1002\/art.23199","volume":"58","author":"MM Hazen","year":"2008","unstructured":"Hazen MM, Woodward AL, Hofmann I, Degar BA, Grom A, Filipovich AH, et al. Mutations of the hemophagocytic lymphohistiocytosis-associated gene UNC13D in a patient with systemic juvenile idiopathic arthritis. Arthritis Rheum. 2008;58:567\u201370.","journal-title":"Arthritis Rheum"},{"key":"98_CR34","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1007\/s11926-014-0439-2","volume":"16","author":"M Zhang","year":"2014","unstructured":"Zhang M, Behrens EM, Atkinson TP, Shakoory B, Grom AA, Cron RQ. Genetic defects in cytolysis in macrophage activation syndrome. Curr Rheumatol Rep. 2014;16:439.","journal-title":"Curr Rheumatol Rep"},{"key":"98_CR35","doi-asserted-by":"publisher","DOI":"10.1002\/art.40438.","author":"GS Schulert","year":"2018","unstructured":"Schulert GS, Zhang M, Husami A, Fall N, Brunner H, Zhang K, et al. Novel UNC13D intronic variant disrupting a NF\u03baB enhancer in a patient with recurrent macrophage activation syndrome and systemic juvenile idiopathic arthritis. Arthritis Rheumatol. 2018. https:\/\/doi.org\/10.1002\/art.40438.","journal-title":"Arthritis Rheumatol"},{"key":"98_CR36","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1172\/JCI26217","volume":"116","author":"KA Risma","year":"2006","unstructured":"Risma KA, Frayer RW, Filipovich AH, Sumegi J. Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis. J Clin Invest. 2006;116:182\u201392.","journal-title":"J Clin Invest"},{"key":"98_CR37","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1038\/icb.2015.1","volume":"93","author":"IG House","year":"2015","unstructured":"House IG, Thia K, Brennan AJ, Tothill R, Dobrovic A, Yeh WZ, et al. Heterozygosity for the common perforin mutation, p.A91V, impairs the cytotoxicity of primary natural killer cells from healthy individuals. Immunol Cell Biol. 2015;93:575\u201380.","journal-title":"Immunol Cell Biol"},{"key":"98_CR38","doi-asserted-by":"publisher","DOI":"10.1002\/art.38793.","author":"KM Kaufman","year":"2014","unstructured":"Kaufman KM, Linghu B, Szustakowski JD, Husami A, Yang F, Zhang K, et al. Whole exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosis. Arthritis Rheumatol. 2014. https:\/\/doi.org\/10.1002\/art.38793.","journal-title":"Arthritis Rheumatol"},{"key":"98_CR39","doi-asserted-by":"publisher","first-page":"1180","DOI":"10.1093\/infdis\/jiv550","volume":"213","author":"GS Schulert","year":"2016","unstructured":"Schulert GS, Zhang M, Fall N, Husami A, Kissell D, Hanosh A, et al. Whole-exome sequencing reveals mutations in genes linked to hemophagocytic lymphohistiocytosis and macrophage activation syndrome in fatal cases of H1N1 influenza. J Infect Dis. 2016;213:1180\u20138.","journal-title":"J Infect Dis"},{"key":"98_CR40","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1309\/AJCP35KOZSAVNQZW","volume":"134","author":"PW Harms","year":"2010","unstructured":"Harms PW, Schmidt LA, Smith LB, Newton DW, Pletneva MA, Walters LL, et al. Autopsy findings in eight patients with fatal H1N1 influenza. Am J Clin Pathol. 2010;134:27\u201335.","journal-title":"Am J Clin Pathol"},{"key":"98_CR41","doi-asserted-by":"publisher","first-page":"2113","DOI":"10.1182\/blood-2015-12-688960","volume":"127","author":"FE Sepulveda","year":"2016","unstructured":"Sepulveda FE, Garrigue A, Maschalidi S, Garfa-Traore M, M\u00e9nasch\u00e9 G, Fischer A, et al. Polygenic mutations in the cytotoxicity pathway increase susceptibility to develop HLH immunopathology in mice. Blood. 2016;127:2113\u201321.","journal-title":"Blood"},{"key":"98_CR42","doi-asserted-by":"publisher","first-page":"448","DOI":"10.3389\/fimmu.2013.00448","volume":"4","author":"B Jessen","year":"2013","unstructured":"Jessen B, K\u00f6gl T, Sepulveda FE, de Saint Basile G, Aichele P, Ehl S. Graded defects in cytotoxicity determine severity of hemophagocytic lymphohistiocytosis in humans and mice. Front Immunol. 2013;4:448.","journal-title":"Front Immunol"},{"key":"98_CR43","doi-asserted-by":"publisher","first-page":"1331","DOI":"10.1182\/blood-2014-05-573105","volume":"124","author":"K Zhang","year":"2014","unstructured":"Zhang K, Chandrakasan S, Chapman H, Valencia CA, Husami A, Kissell D, et al. Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis. Blood. 2014;124:1331\u20134.","journal-title":"Blood"},{"key":"98_CR44","doi-asserted-by":"publisher","first-page":"1566","DOI":"10.1182\/blood-2014-11-610816","volume":"125","author":"WA Spessott","year":"2015","unstructured":"Spessott WA, Sanmillan ML, McCormick ME, Patel N, Villanueva J, Zhang K, et al. Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion. Blood. 2015;125:1566\u201377.","journal-title":"Blood"},{"key":"98_CR45","doi-asserted-by":"publisher","first-page":"326","DOI":"10.1002\/art.41103","volume":"72","author":"EM Eloseily","year":"2020","unstructured":"Eloseily EM, Weiser P, Crayne CB, Haines H, Mannion ML, Stoll ML, et al. Benefit of anakinra in treating pediatric secondary hemophagocytic lymphohistiocytosis. Arthritis Rheumatol. 2020;72:326\u201334.","journal-title":"Arthritis Rheumatol"},{"key":"98_CR46","doi-asserted-by":"publisher","first-page":"200","DOI":"10.1111\/cge.13363","volume":"94","author":"X Chen","year":"2018","unstructured":"Chen X, Wang F, Zhang Y, Teng W, Wang M, Nie D, et al. Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP. Clin Genet. 2018;94:200\u201312.","journal-title":"Clin Genet"},{"key":"98_CR47","doi-asserted-by":"publisher","first-page":"395","DOI":"10.3389\/fimmu.2019.00395","volume":"10","author":"Y Miao","year":"2019","unstructured":"Miao Y, Zhu H-Y, Qiao C, Xia Y, Kong Y, Zou Y-X, et al. Pathogenic gene mutations or variants identified by targeted gene sequencing in adults with hemophagocytic lymphohistiocytosis. Front Immunol. 2019;10:395.","journal-title":"Front Immunol"},{"key":"98_CR48","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1182\/blood-2017-11-814244","volume":"132","author":"IK Chinn","year":"2018","unstructured":"Chinn IK, Eckstein OS, Peckham-Gregory EC, Goldberg BR, Forbes LR, Nicholas SK, et al. Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. Blood. 2018;132:89\u2013100.","journal-title":"Blood"},{"key":"98_CR49","doi-asserted-by":"crossref","unstructured":"Zhang M, Cron R, Absher D, Crayne C, Atkinson P, Chatham W, et al. Characterization of DOCK8 as a novel gene associated with macrophage activation syndrome. Arthritis Rheumatol. 2019;71(suppl 10). https:\/\/acrabstracts.org\/abstract\/characterization-of-dock8-as-a-novel-gene-associated-with-macrophage-activation-syndrome.","DOI":"10.3389\/fimmu.2019.00119"},{"key":"98_CR50","doi-asserted-by":"publisher","first-page":"2778","DOI":"10.1084\/jem.20190147","volume":"216","author":"MT Lam","year":"2019","unstructured":"Lam MT, Coppola S, Krumbach OHF, Prencipe G, Insalaco A, Cifaldi C, et al. A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function. J Exp Med. 2019;216:2778\u201399.","journal-title":"J Exp Med"},{"key":"98_CR51","doi-asserted-by":"publisher","first-page":"1122","DOI":"10.1016\/j.jaci.2019.06.017","volume":"144","author":"Y Gernez","year":"2019","unstructured":"Gernez Y, de Jesus AA, Alsaleem H, Macaubas C, Roy A, Lovell D, et al. Severe autoinflammation in 4 patients with C-terminal variants in cell division control protein 42 homolog (CDC42) successfully treated with IL-1\u03b2 inhibition. J Allergy Clin Immunol. 2019;144:1122\u201325.e6.","journal-title":"J Allergy Clin Immunol"},{"key":"98_CR52","doi-asserted-by":"publisher","first-page":"13765","DOI":"10.1073\/pnas.95.23.13765","volume":"95","author":"KE Nichols","year":"1998","unstructured":"Nichols KE, Harkin DP, Levitz S, Krainer M, Kolquist KA, Genovese C, et al. Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. Proc Natl Acad Sci. 1998;95:13765\u201370.","journal-title":"Proc Natl Acad Sci"},{"key":"98_CR53","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1038\/2424","volume":"20","author":"AJ Coffey","year":"1998","unstructured":"Coffey AJ, Brooksbank RA, Brandau O, Oohashi T, Howell GR, Bye JM, et al. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat Genet. 1998;20:129\u201335.","journal-title":"Nat Genet"},{"key":"98_CR54","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1038\/26683","volume":"395","author":"J Sayos","year":"1998","unstructured":"Sayos J, Wu C, Morra M, Wang N, Zhang X, Allen D, et al. The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. Nature. 1998;395:462\u20139.","journal-title":"Nature"},{"key":"98_CR55","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1111\/j.1365-2141.2010.08442.x","volume":"152","author":"N Rezaei","year":"2011","unstructured":"Rezaei N, Mahmoudi E, Aghamohammadi A, Das R, Nichols KE. X-linked lymphoproliferative syndrome: a genetic condition typified by the triad of infection, immunodeficiency and lymphoma. Br J Haematol. 2011;152:13\u201330.","journal-title":"Br J Haematol"},{"key":"98_CR56","doi-asserted-by":"publisher","first-page":"1131","DOI":"10.1182\/blood.V97.4.1131","volume":"97","author":"M Arico","year":"2001","unstructured":"Arico M, Imashuku S, Clementi R, Hibi S, Teramura T, Danesino C, et al. Hemophagocytic lymphohistiocytosis due to germline mutations inSH2D1A, the X-linked lymphoproliferative disease gene. Blood. 2001;97:1131\u20133.","journal-title":"Blood"},{"key":"98_CR57","doi-asserted-by":"publisher","first-page":"1350","DOI":"10.1172\/JCI37901","volume":"119","author":"K Huck","year":"2009","unstructured":"Huck K, Feyen O, Niehues T, R\u00fcschendorf F, H\u00fcbner N, Laws H-J, et al. Girls homozygous for an IL-2\u2013inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. J Clin Invest. 2009;119:1350\u20138.","journal-title":"J Clin Invest"},{"key":"98_CR58","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/j.immuni.2006.05.012","volume":"25","author":"LO Atherly","year":"2006","unstructured":"Atherly LO, Lucas JA, Felices M, Yin CC, Reiner SL, Berg LJ. The Tec family tyrosine kinases Itk and Rlk regulate the development of conventional CD8+ T cells. Immunity. 2006;25:79\u201391.","journal-title":"Immunity"},{"key":"98_CR59","doi-asserted-by":"publisher","first-page":"472","DOI":"10.3324\/haematol.2010.033910","volume":"96","author":"P Stepensky","year":"2011","unstructured":"Stepensky P, Weintraub M, Yanir A, Revel-Vilk S, Krux F, Huck K, et al. IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach. Haematologica. 2011;96:472\u20136.","journal-title":"Haematologica"},{"key":"98_CR60","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1172\/JCI40178","volume":"120","author":"V Peperzak","year":"2010","unstructured":"Peperzak V, Xiao Y, Veraar EAM, Borst J. CD27 sustains survival of CTLs in virus-infected nonlymphoid tissue in mice by inducing autocrine IL-2 production. J Clin Invest. 2010;120:168\u201378.","journal-title":"J Clin Invest"},{"key":"98_CR61","doi-asserted-by":"publisher","first-page":"1625","DOI":"10.1182\/blood-2003-07-2525","volume":"103","author":"A Malbran","year":"2004","unstructured":"Malbran A, Belmonte L, Ruibal-Ares B, Bare\u0301 P, Massud I, Parodi C, et al. Loss of circulating CD27+ memory B cells and CCR4+ T cells occurring in association with elevated EBV loads in XLP patients surviving primary EBV infection. Blood. 2004;103:1625\u201331.","journal-title":"Blood"},{"key":"98_CR62","doi-asserted-by":"publisher","first-page":"473","DOI":"10.3324\/haematol.2012.068791","volume":"98","author":"E Salzer","year":"2013","unstructured":"Salzer E, Daschkey S, Choo S, Gombert M, Santos-Valente E, Ginzel S, et al. Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27. Haematologica. 2013;98:473\u20138.","journal-title":"Haematologica"},{"key":"98_CR63","doi-asserted-by":"publisher","first-page":"703","DOI":"10.1016\/j.jaci.2015.02.022","volume":"136","author":"OK Alkhairy","year":"2015","unstructured":"Alkhairy OK, Perez-Becker R, Driessen GJ, Abolhassani H, van Montfrans J, Borte S, et al. Novel mutations in TNFRSF7\/CD27: clinical, immunologic, and genetic characterization of human CD27 deficiency. J Allergy Clin Immunol. 2015;136:703\u201312.e10.","journal-title":"J Allergy Clin Immunol"},{"key":"98_CR64","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1084\/jem.20160784","volume":"214","author":"K Izawa","year":"2017","unstructured":"Izawa K, Martin E, Soudais C, Bruneau J, Boutboul D, Rodriguez R, et al. Inherited CD70 deficiency in humans reveals a critical role for the CD70\u2013CD27 pathway in immunity to Epstein-Barr virus infection. J Exp Med. 2017;214:73\u201389.","journal-title":"J Exp Med"},{"key":"98_CR65","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1084\/jem.20160849","volume":"214","author":"H Abolhassani","year":"2017","unstructured":"Abolhassani H, Edwards ESJ, Ikinciogullari A, Jing H, Borte S, Buggert M, et al. Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency. J Exp Med. 2017;214:91\u2013106.","journal-title":"J Exp Med"},{"key":"98_CR66","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1097\/ACI.0000000000000126","volume":"15","author":"AP Hsu","year":"2015","unstructured":"Hsu AP, McReynolds LJ, Holland SM. GATA2 deficiency. Curr Opin Allergy Clin Immunol. 2015;15:104\u20139.","journal-title":"Curr Opin Allergy Clin Immunol"},{"key":"98_CR67","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1093\/cid\/ciw160","volume":"63","author":"JI Cohen","year":"2016","unstructured":"Cohen JI, Dropulic L, Hsu AP, Zerbe CS, Krogmann T, Dowdell K, et al. Association of GATA2 deficiency with severe primary epstein-barr virus (EBV) infection and EBV-associated cancers. Clin Infect Dis. 2016;63:41\u20137.","journal-title":"Clin Infect Dis"},{"key":"98_CR68","doi-asserted-by":"publisher","DOI":"10.1016\/j.jiac.2019.07.002.","author":"T Suzuki","year":"2019","unstructured":"Suzuki T, Takaya S, Kunimatsu J, Kutsuna S, Hayakawa K, Shibata H, et al. GATA2 mutation underlies hemophagocytic lymphohistiocytosis in an adult with primary cytomegalovirus infection. J Infect Chemother. 2019. https:\/\/doi.org\/10.1016\/j.jiac.2019.07.002.","journal-title":"J Infect Chemother"},{"key":"98_CR69","doi-asserted-by":"publisher","first-page":"2766","DOI":"10.3389\/fimmu.2018.02766","volume":"9","author":"S Prader","year":"2018","unstructured":"Prader S, Felber M, Volkmer B, Tr\u00fcck J, Schwieger-Briel A, Theiler M, et al. Life-threatening primary varicella zoster virus infection with hemophagocytic lymphohistiocytosis-like disease in GATA2 haploinsufficiency accompanied by expansion of double negative T-lymphocytes. Front Immunol. 2018;9:2766.","journal-title":"Front Immunol"},{"key":"98_CR70","doi-asserted-by":"publisher","first-page":"1286","DOI":"10.1002\/humu.23302","volume":"38","author":"E van de Vosse","year":"2017","unstructured":"van de Vosse E, van Dissel JT. IFN-\u03b3R1 defects: mutation update and description of the IFNGR1 variation database. Hum Mutat. 2017;38:1286\u201396.","journal-title":"Hum Mutat"},{"key":"98_CR71","doi-asserted-by":"publisher","first-page":"1638","DOI":"10.1016\/j.jaci.2014.11.030","volume":"135","author":"B Tesi","year":"2015","unstructured":"Tesi B, Sieni E, Neves C, Romano F, Cetica V, Cordeiro AI, et al. Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-\u03b3 receptor deficiency. J Allergy Clin Immunol. 2015;135:1638\u201341.","journal-title":"J Allergy Clin Immunol"},{"key":"98_CR72","doi-asserted-by":"publisher","first-page":"2215","DOI":"10.1016\/j.jaci.2018.10.068","volume":"143","author":"S Humblet-Baron","year":"2019","unstructured":"Humblet-Baron S, Franckaert D, Dooley J, Ailal F, Bousfiha A, Deswarte C, et al. IFN-\u03b3 and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis. J Allergy Clin Immunol. 2019;143:2215\u201326.e7.","journal-title":"J Allergy Clin Immunol"},{"key":"98_CR73","doi-asserted-by":"publisher","first-page":"75","DOI":"10.3389\/fped.2017.00075","volume":"5","author":"AT Staines-Boone","year":"2017","unstructured":"Staines-Boone AT, Deswarte C, Venegas Montoya E, S\u00e1nchez-S\u00e1nchez LM, Garc\u00eda Campos JA, Mu\u00f1iz-Ronquillo T, et al. Multifocal recurrent osteomyelitis and hemophagocytic lymphohistiocytosis in a boy with partial dominant IFN-\u03b3R1 deficiency: case report and review of the literature. Front Pediatr. 2017;5:75.","journal-title":"Front Pediatr"},{"key":"98_CR74","doi-asserted-by":"publisher","first-page":"769","DOI":"10.3899\/jrheum.100655","volume":"38","author":"M Yanagimachi","year":"2011","unstructured":"Yanagimachi M, Naruto T, Miyamae T, Hara T, Kikuchi M, Hara R, et al. Association of IRF5 polymorphisms with susceptibility to macrophage activation syndrome in patients with juvenile idiopathic arthritis. J Rheumatol. 2011;38:769\u201374.","journal-title":"J Rheumatol"},{"key":"98_CR75","doi-asserted-by":"publisher","first-page":"946","DOI":"10.1007\/s10875-011-9583-x","volume":"31","author":"M Yanagimachi","year":"2011","unstructured":"Yanagimachi M, Goto H, Miyamae T, Kadota K, Imagawa T, Mori M, et al. Association of IRF5 polymorphisms with susceptibility to hemophagocytic lymphohistiocytosis in children. J Clin Immunol. 2011;31:946\u201351.","journal-title":"J Clin Immunol"},{"key":"98_CR76","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1093\/intimm\/dxy032","volume":"30","author":"T Ban","year":"2018","unstructured":"Ban T, Sato GR, Tamura T. Regulation and role of the transcription factor IRF5 in innate immune responses and systemic lupus erythematosus. Int Immunol. 2018;30:529\u201336.","journal-title":"Int Immunol"},{"key":"98_CR77","doi-asserted-by":"publisher","first-page":"3047","DOI":"10.3389\/fimmu.2018.03047","volume":"9","author":"TH Mogensen","year":"2019","unstructured":"Mogensen TH. IRF and STAT transcription factors\u2014from basic biology to roles in infection, protective immunity, and primary immunodeficiencies. Front Immunol. 2019;9:3047.","journal-title":"Front Immunol"},{"key":"98_CR78","first-page":"451","volume":"11","author":"JL Stephan","year":"1993","unstructured":"Stephan JL, Zeller J, Hubert P, Herbelin C, Dayer JM, Prieur AM. Macrophage activation syndrome and rheumatic disease in childhood\u2014a report of 4 new cases. Clin Exp Rheumatol. 1993;11:451\u20136.","journal-title":"Clin Exp Rheumatol"},{"key":"98_CR79","doi-asserted-by":"publisher","first-page":"630","DOI":"10.1016\/S0022-3476(96)70140-3","volume":"129","author":"AA Grom","year":"1996","unstructured":"Grom AA, Passo M. Macrophage activation syndrome in systemic juvenile rheumatoid arthritis. J Pediatr. 1996;129:630\u20132.","journal-title":"J Pediatr"},{"key":"98_CR80","doi-asserted-by":"publisher","first-page":"416","DOI":"10.1038\/nrrheum.2011.68","volume":"7","author":"ED Mellins","year":"2011","unstructured":"Mellins ED, Macaubas C, Grom AA. Pathogenesis of systemic juvenile idiopathic arthritis: some answers, more questions. Nat Rev Rheumatol. 2011;7:416\u201326.","journal-title":"Nat Rev Rheumatol"},{"key":"98_CR81","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1146\/annurev.immunol.25.022106.141627","volume":"27","author":"SL Masters","year":"2009","unstructured":"Masters SL, Simon A, Aksentijevich I, Kastner DL. Horror autoinflammaticus: the molecularpathophysiology of autoinflammatory disease (*). Annu Rev Immunol. 2009;27:621\u201368.","journal-title":"Annu Rev Immunol."},{"key":"98_CR82","doi-asserted-by":"publisher","first-page":"2385","DOI":"10.1084\/jem.20141091","volume":"211","author":"A Kitamura","year":"2014","unstructured":"Kitamura A, Sasaki Y, Abe T, Kano H, Yasutomo K. An inherited mutation in NLRC4 causes autoinflammation in human and mice. J Exp Med. 2014;211:2385\u201396.","journal-title":"J Exp Med"},{"key":"98_CR83","doi-asserted-by":"publisher","first-page":"1140","DOI":"10.1038\/ng.3089","volume":"46","author":"SW Canna","year":"2014","unstructured":"Canna SW, de Jesus AA, Gouni S, Brooks SR, Marrero B, Liu Y, et al. An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome. Nat Genet. 2014;46:1140\u20136.","journal-title":"Nat Genet"},{"key":"98_CR84","doi-asserted-by":"publisher","first-page":"1135","DOI":"10.1038\/ng.3066","volume":"46","author":"N Romberg","year":"2014","unstructured":"Romberg N, Al Moussawi K, Nelson-Williams C, Stiegler AL, Loring E, Choi M, et al. Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nat Genet. 2014;46:1135\u20139.","journal-title":"Nat Genet"},{"key":"98_CR85","doi-asserted-by":"publisher","first-page":"1698","DOI":"10.1016\/j.jaci.2016.10.022","volume":"139","author":"SW Canna","year":"2017","unstructured":"Canna SW, Girard C, Malle L, de Jesus A, Romberg N, Kelsen J, et al. Life-threatening NLRC4-associated hyperinflammation successfully treated with IL-18 inhibition. J Allergy Clin Immunol. 2017;139:1698\u2013701.","journal-title":"J Allergy Clin Immunol"},{"key":"98_CR86","doi-asserted-by":"publisher","first-page":"R86","DOI":"10.1186\/ar3013","volume":"12","author":"K Murata","year":"2010","unstructured":"Murata K, Yoshitomi H, Tanida S, Ishikawa M, Nishitani K, Ito H, et al. Plasma and synovial fluid microRNAs as potential biomarkers of rheumatoid arthritis and osteoarthritis. Arthritis Res Ther. 2010;12:R86.","journal-title":"Arthritis Res Ther"},{"key":"98_CR87","doi-asserted-by":"publisher","first-page":"550","DOI":"10.1002\/1529-0131(200103)44:3<550::AID-ANR103>3.0.CO;2-5","volume":"44","author":"M Kawashima","year":"2001","unstructured":"Kawashima M, Yamamura M, Taniai M, Yamauchi H, Tanimoto T, Kurimoto M, et al. Levels of interleukin-18 and its binding inhibitors in the blood circulation of patients with adult-onset Still\u2019s disease. Arthritis Rheum. 2001;44:550\u201360.","journal-title":"Arthritis Rheum"},{"key":"98_CR88","doi-asserted-by":"publisher","first-page":"2539","DOI":"10.1002\/art.10389","volume":"46","author":"N Maeno","year":"2002","unstructured":"Maeno N, Takei S, Nomura Y, Imanaka H, Hokonohara M, Miyata K. Highly elevated serum levels of interleukin-18 in systemic juvenile idiopathic arthritis but not in other juvenile idiopathic arthritis subtypes or in Kawasaki disease: comment on the article by Kawashima et al. Arthritis Rheum. 2002;46:2539\u201341.","journal-title":"Arthritis Rheum"},{"key":"98_CR89","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1016\/j.cyto.2012.11.025","volume":"61","author":"M Shimizu","year":"2013","unstructured":"Shimizu M, Nakagishi Y, Yachie A. Distinct subsets of patients with systemic juvenile idiopathic arthritis based on their cytokine profiles. Cytokine. 2013;61:345\u20138.","journal-title":"Cytokine"},{"key":"98_CR90","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/kez282.","author":"S Yasin","year":"2019","unstructured":"Yasin S, Fall N, Brown RA, Henderlight M, Canna SW, Girard-Guyonvarc\u2019h C, et al. IL-18 as a biomarker linking systemic juvenile idiopathic arthritis and macrophage activation syndrome. Rheumatology. 2019. https:\/\/doi.org\/10.1093\/rheumatology\/kez282.","journal-title":"Rheumatology"},{"key":"98_CR91","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1038\/nature05257","volume":"444","author":"S Rigaud","year":"2006","unstructured":"Rigaud S, Fondan\u00e8che M-C, Lambert N, Pasquier B, Mateo V, Soulas P, et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature. 2006;444:110\u20134.","journal-title":"Nature"},{"key":"98_CR92","doi-asserted-by":"publisher","first-page":"1079","DOI":"10.1182\/blood-2010-01-256099","volume":"116","author":"RA Marsh","year":"2010","unstructured":"Marsh RA, Madden L, Kitchen BJ, Mody R, McClimon B, Jordan MB, et al. XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood. 2010;116:1079\u201382.","journal-title":"Blood"},{"key":"98_CR93","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1016\/j.semcdb.2015.01.015","volume":"39","author":"S Latour","year":"2015","unstructured":"Latour S, Aguilar C. XIAP deficiency syndrome in humans. Semin Cell Dev Biol. 2015;39:115\u201323.","journal-title":"Semin Cell Dev Biol"},{"key":"98_CR94","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1016\/j.cyto.2013.09.007","volume":"65","author":"T Wada","year":"2014","unstructured":"Wada T, Kanegane H, Ohta K, Katoh F, Imamura T, Nakazawa Y, et al. Sustained elevation of serum interleukin-18 and its association with hemophagocytic lymphohistiocytosis in XIAP deficiency. Cytokine. 2014;65:74\u20138.","journal-title":"Cytokine"},{"key":"98_CR95","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1186\/s12969-019-0328-3","volume":"17","author":"A Arduini","year":"2019","unstructured":"Arduini A, Marasco E, Marucci G, Pardeo M, Insalaco A, Caiello I, et al. An unusual presentation of purine nucleoside phosphorylase deficiency mimicking systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome. Pediatr Rheumatol. 2019;17:25.","journal-title":"Pediatr Rheumatol"},{"key":"98_CR96","doi-asserted-by":"publisher","DOI":"10.1007\/s10067-015-2923-0.","author":"D Rigante","year":"2015","unstructured":"Rigante D, Emmi G, Fastiggi M, Silvestri E, Cantarini L. Macrophage activation syndrome in the course of monogenic autoinflammatory disorders. Clin Rheumatol. 2015. https:\/\/doi.org\/10.1007\/s10067-015-2923-0.","journal-title":"Clin Rheumatol"},{"key":"98_CR97","doi-asserted-by":"publisher","first-page":"2795","DOI":"10.1002\/art.39763","volume":"68","author":"NM Ter Haar","year":"2016","unstructured":"Ter Haar NM, Jeyaratnam J, Lachmann HJ, Simon A, Brogan PA, Doglio M, et al. The phenotype and genotype of mevalonate kinase deficiency: A series of 114 cases from the eurofever registry. Arthritis Rheumatol. 2016;68:2795\u2013805.","journal-title":"Arthritis Rheumatol"},{"key":"98_CR98","doi-asserted-by":"publisher","first-page":"520","DOI":"10.1038\/s41435-018-0030-3","volume":"20","author":"KF Kernan","year":"2019","unstructured":"Kernan KF, Ghaloul-Gonzalez L, Shakoory B, Kellum JA, Angus DC, Carcillo JA. Adults with septic shock and extreme hyperferritinemia exhibit pathogenic immune variation. Genes Immun. 2019;20:520\u20136.","journal-title":"Genes Immun"},{"key":"98_CR99","doi-asserted-by":"publisher","first-page":"1169","DOI":"10.1016\/j.jaci.2008.08.018","volume":"122","author":"EP Hanson","year":"2008","unstructured":"Hanson EP, Monaco-Shawver L, Solt LA, Madge LA, Banerjee PP, May MJ, et al. Hypomorphic nuclear factor-\u03baB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. J Allergy Clin Immunol. 2008;122:1169\u201377.e16.","journal-title":"J Allergy Clin Immunol"},{"key":"98_CR100","doi-asserted-by":"publisher","first-page":"976","DOI":"10.1016\/j.jaci.2007.11.014","volume":"121","author":"BH Salt","year":"2008","unstructured":"Salt BH, Niemela JE, Pandey R, Hanson EP, Deering RP, Quinones R, et al. IKBKG (nuclear factor-\u03baB essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function. J Allergy Clin Immunol. 2008;121:976\u201382.","journal-title":"J Allergy Clin Immunol"},{"key":"98_CR101","doi-asserted-by":"publisher","first-page":"1138","DOI":"10.1016\/j.molmed.2017.10.004","volume":"23","author":"G Maubach","year":"2017","unstructured":"Maubach G, Schm\u00e4dicke A-C, Naumann M. NEMO links nuclear factor-\u03baB to human diseases. Trends Mol Med. 2017;23:1138\u201355.","journal-title":"Trends Mol Med"},{"key":"98_CR102","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1007\/s10875-016-0350-x","volume":"37","author":"S Ricci","year":"2017","unstructured":"Ricci S, Romano F, Nieddu F, Picard C, Azzari C. OL-EDA-ID syndrome: a novel hypomorphic NEMO mutation associated with a severe clinical presentation and transient HLH. J Clin Immunol. 2017;37:7\u201311.","journal-title":"J Clin Immunol"},{"key":"98_CR103","doi-asserted-by":"publisher","DOI":"10.1172\/JCI129301.","author":"AA de Jesus","year":"2019","unstructured":"de Jesus AA, Hou Y, Brooks S, Malle L, Biancotto A, Huang Y, et al. Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases. J Clin Invest. 2019. https:\/\/doi.org\/10.1172\/JCI129301.","journal-title":"J Clin Invest"},{"key":"98_CR104","first-page":"2081","volume":"33","author":"EM Behrens","year":"2006","unstructured":"Behrens EM, Kreiger PA, Cherian S, Cron RQ. Interleukin 1 receptor antagonist to treat cytophagic histiocytic panniculitis with secondary hemophagocytic lymphohistiocytosis. J Rheumatol. 2006;33:2081\u20134.","journal-title":"J Rheumatol"},{"key":"98_CR105","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1038\/ng.3459","volume":"48","author":"Q Zhou","year":"2016","unstructured":"Zhou Q, Wang H, Schwartz DM, Stoffels M, Park YH, Zhang Y, et al. Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. Nat Genet. 2016;48:67\u201373.","journal-title":"Nat Genet"},{"key":"98_CR106","doi-asserted-by":"publisher","first-page":"399","DOI":"10.3389\/fimmu.2017.00399","volume":"8","author":"I Aksentijevich","year":"2017","unstructured":"Aksentijevich I, Zhou Q. NF-\u03baB pathway in autoinflammatory diseases: dysregulation of protein modifications by ubiquitin defines a new category of autoinflammatory diseases. Front Immunol. 2017;8:399.","journal-title":"Front Immunol"},{"key":"98_CR107","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-019-0856-1","volume":"20","author":"G Li","year":"2019","unstructured":"Li G, Liu H, Guan W, Xu H, Wu B, Sun L. Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report. BMC Med Genet. 2019;20:124.","journal-title":"BMC Med Genet"},{"key":"98_CR108","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2019-230434","volume":"12","author":"N Urriola","year":"2019","unstructured":"Urriola N, Williams A, Keat K. Macrophage activation syndrome\/haemophagocytic lymphohistiocytosis secondary to Burkholderia cepacia complex septicaemia in an elderly female carrier of X-linked chronic granulomatous disease with extreme lyonisation: \u2018cepacia syndrome\u2019 revisited. BMJ Case Rep. 2019;12:e230434.","journal-title":"BMJ Case Rep"},{"key":"98_CR109","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1007\/s10875-011-9616-5","volume":"32","author":"A \u00c1lvarez-Cardona","year":"2012","unstructured":"\u00c1lvarez-Cardona A, Rodr\u00edguez-Lozano AL, Blancas-Galicia L, Rivas-Larrauri FE, Yamazaki-Nakashimada MA. Intravenous immunoglobulin treatment for macrophage activation syndrome complicating chronic granulomatous disease. J Clin Immunol. 2012;32:207\u201311.","journal-title":"J Clin Immunol"},{"key":"98_CR110","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1002\/pbc.21851","volume":"52","author":"JM van Montfrans","year":"2009","unstructured":"van Montfrans JM, Rudd E, van de Corput L, Henter J-I, Nikkels P, Wulffraat N, et al. Fatal hemophagocytic lymphohistiocytosis in X-linked chronic granulomatous disease associated with a perforin gene variant. Pediatr Blood Cancer. 2009;52:527\u20139.","journal-title":"Pediatr Blood Cancer"},{"key":"98_CR111","doi-asserted-by":"publisher","first-page":"e1727","DOI":"10.1542\/peds.2014-2175","volume":"134","author":"G Valentine","year":"2014","unstructured":"Valentine G, Thomas TA, Nguyen T, Lai Y-C. Chronic granulomatous disease presenting as hemophagocytic lymphohistiocytosis: a case report. Pediatrics. 2014;134:e1727\u201330.","journal-title":"Pediatrics"},{"key":"98_CR112","doi-asserted-by":"publisher","first-page":"e169","DOI":"10.1097\/MPH.0b013e31828e5dae","volume":"36","author":"K Akagi","year":"2014","unstructured":"Akagi K, Kawai T, Watanabe N, Yokoyama M, Arai K, Harayama S, et al. A case of macrophage activation syndrome developing in a patient with chronic granulomatous disease-associated colitis. J Pediatr Hematol Oncol. 2014;36:e169\u201372.","journal-title":"J Pediatr Hematol Oncol"},{"key":"98_CR113","doi-asserted-by":"publisher","first-page":"460","DOI":"10.1002\/pbc.22830","volume":"56","author":"C Parekh","year":"2011","unstructured":"Parekh C, Hofstra T, Church JA, Coates TD. Hemophagocytic lymphohistiocytosis in children with chronic granulomatous disease. Pediatr Blood Cancer. 2011;56:460\u20132.","journal-title":"Pediatr Blood Cancer"},{"key":"98_CR114","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1016\/j.ymgme.2003.11.015","volume":"81","author":"M Palac\u0131\u0301n","year":"2004","unstructured":"Palac\u0131\u0301n M, Bertran J, Chillar\u00f3n J, Est\u00e9vez R, Zorzano A. Lysinuric protein intolerance: mechanisms of pathophysiology. Mol Genet Metab. 2004;81:27\u201337.","journal-title":"Mol Genet Metab"},{"key":"98_CR115","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0550-8","volume":"12","author":"W Mauhin","year":"2017","unstructured":"Mauhin W, Habarou F, Gobin S, Servais A, Brassier A, Grisel C, et al. Update on lysinuric protein intolerance, a multi-faceted disease retrospective cohort analysis from birth to adulthood. Orphanet J Rare Dis. 2017;12:3.","journal-title":"Orphanet J Rare Dis"},{"key":"98_CR116","doi-asserted-by":"publisher","unstructured":"Gruber C, Martin-Fernandez M, Ailal F, Qiu X, Taft J, Altman J, et al. Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy. J Exp Med. 2020;217. https:\/\/doi.org\/10.1084\/jem.20192319.","DOI":"10.1084\/jem.20192319"},{"key":"98_CR117","doi-asserted-by":"publisher","first-page":"eaav7501","DOI":"10.1126\/sciimmunol.aav7501","volume":"4","author":"CJA Duncan","year":"2019","unstructured":"Duncan CJA, Thompson BJ, Chen R, Rice GI, Gothe F, Young DF, et al. Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2. Sci Immunol. 2019;4:eaav7501.","journal-title":"Sci Immunol"},{"key":"98_CR118","unstructured":"Tsoukas P, Schneider C, Van der kraak L, Canna S. Abortive viral infection becomes macrophage activation syndrome in mice with chronically elevated interleukin-18: evidence for synergy wiht cytotoxic impairment. Arthritis Rheumatol. 2018;70(suppl 10). https:\/\/acrabstracts.org\/abstract\/abortive-viral-infection-becomes-macrophage-activation-syndrome-in-mice-with-chronically-elevated-interleukin-18-evidence-for-synergy-with-cytotoxic-impairment\/."},{"key":"98_CR119","doi-asserted-by":"publisher","first-page":"906","DOI":"10.1136\/annrheumdis-2016-210324","volume":"76","author":"MJ Ombrello","year":"2017","unstructured":"Ombrello MJ, Arthur VL, Remmers EF, Hinks A, Tachmazidou I, Grom AA, et al. Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications. Ann Rheum Dis. 2017;76:906\u201313.","journal-title":"Ann Rheum Dis"},{"key":"98_CR120","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1186\/s13075-017-1406-x","volume":"19","author":"T Asano","year":"2017","unstructured":"Asano T, Furukawa H, Sato S, Yashiro M, Kobayashi H, Watanabe H, et al. Effects of HLA-DRB1 alleles on susceptibility and clinical manifestations in Japanese patients with adult onset Still\u2019s disease. Arthritis Res Ther. 2017;19:199.","journal-title":"Arthritis Res Ther"},{"key":"98_CR121","doi-asserted-by":"publisher","first-page":"1085","DOI":"10.1097\/PCC.0000000000002082","volume":"20","author":"KF Kernan","year":"2019","unstructured":"Kernan KF, Ghaloul-Gonzalez L, Vockley J, Carcillo JA. Rapid whole genome sequencing and fulfilling the promise of precision pediatric critical care*. Pediatr Crit Care Med. 2019;20:1085\u20136.","journal-title":"Pediatr Crit Care Med"},{"key":"98_CR122","doi-asserted-by":"publisher","first-page":"1007","DOI":"10.1097\/PCC.0000000000002056","volume":"20","author":"EF Sanford","year":"2019","unstructured":"Sanford EF, Clark MM, Farnaes L, Williams MR, Perry JC, Ingulli EG, et al. Rapid whole genome sequencing has clinical utility in children in the PICU*. Pediatr Crit Care Med. 2019;20:1007\u201320.","journal-title":"Pediatr Crit Care Med"},{"key":"98_CR123","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1182\/blood-2018-05-845818","volume":"132","author":"B Tesi","year":"2018","unstructured":"Tesi B, Bryceson YT. HLH: genomics illuminates pathophysiological diversity. Blood. 2018;132:5\u20137.","journal-title":"Blood"}],"container-title":["Genes &amp; Immunity"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41435-020-0098-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41435-020-0098-4","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41435-020-0098-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,21]],"date-time":"2022-10-21T08:38:18Z","timestamp":1666341498000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41435-020-0098-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,15]]},"references-count":123,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2020,5]]}},"alternative-id":["98"],"URL":"https:\/\/doi.org\/10.1038\/s41435-020-0098-4","relation":{},"ISSN":["1466-4879","1476-5470"],"issn-type":[{"value":"1466-4879","type":"print"},{"value":"1476-5470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4,15]]},"assertion":[{"value":"27 January 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 March 2020","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 March 2020","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 April 2020","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"RQC has served as a paid consultant to SOBI, Pfizer, and Novartis, each less than $5000. GSS has served as a paid consultant to Novartis and SOBI, each less than $5000.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}