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Clinical characteristics and treatment outcomes of autoimmune-associated hemophagocytic syndrome in adults. Arthritis Rheumatol. 2014. A large number (n\u2009=\u2009116) of secondary HLH patients with underlying autoimmune diseases was used to identify risk factors (male sex, dermatomyositis, and anemia) associated with mortality.","DOI":"10.1002\/art.38672"},{"issue":"12","key":"439_CR7","doi-asserted-by":"crossref","first-page":"4135","DOI":"10.1002\/art.34661","volume":"64","author":"TD Bennett","year":"2012","unstructured":"Bennett TD, Fluchel M, Hersh AO, Hayward KN, Hersh AL, Brogan TV, et al. Macrophage activation syndrome in children with systemic lupus erythematosus and children with juvenile idiopathic arthritis. Arthritis Rheum. 2012;64(12):4135\u201342. Data from a large number of pediatric JIA (n\u2009=\u2009102) and SLE (n\u2009=\u200919) patients with MAS suggested similar mortality rates in the two populations (6 and 11\u00a0%, respectively).","journal-title":"Arthritis Rheum"},{"issue":"8","key":"439_CR8","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1177\/0961203307079078","volume":"16","author":"A Pringe","year":"2007","unstructured":"Pringe A, Trail L, Ruperto N, Buoncompagni A, Loy A, Breda L, et al. Macrophage activation syndrome in juvenile systemic lupus erythematosus: an under-recognized complication? Lupus. 2007;16(8):587\u201392.","journal-title":"Lupus"},{"issue":"7","key":"439_CR9","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1097\/MPH.0b013e3181dccbf4","volume":"32","author":"GA Latino","year":"2010","unstructured":"Latino GA, Manlhiot C, Yeung RS, Chahal N, McCrindle BW. Macrophage activation syndrome in the acute phase of Kawasaki disease. 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Expert opinion from 232 physicians worldwide was used to identify the most useful clinical and laboratory criteria (hyperferritinemia, falling platelet count, hemophagocytosis in bone marrow) to develop improved diagnostic criteria for MAS in the setting of sJIA.","journal-title":"J Rheumatol"},{"issue":"11","key":"439_CR14","doi-asserted-by":"crossref","first-page":"3388","DOI":"10.1002\/art.24883","volume":"60","author":"A Parodi","year":"2009","unstructured":"Parodi A, Davi S, Pringe AB, Pistorio A, Ruperto N, Magni-Manzoni S, et al. Macrophage activation syndrome in juvenile systemic lupus erythematosus: a multinational multicenter study of thirty-eight patients. Arthritis Rheum. 2009;60(11):3388\u201399.","journal-title":"Arthritis Rheum"},{"key":"439_CR15","doi-asserted-by":"crossref","unstructured":"Fardet L, Galicier L, Lambotte O, Marzac C, Aumont C, Chahwan D, et al. Development and validation of a score for the diagnosis of reactive hemophagocytic syndrome (HScore). 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Humans with biallelic defects in corresponding HLH genes revealed a similar severity gradient in HLH manifested by age of disease onset.","journal-title":"Front Immunol"},{"issue":"4","key":"439_CR27","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1038\/gene.2012.3","volume":"13","author":"A Ravelli","year":"2012","unstructured":"Ravelli A, Grom AA, Behrens EM, Cron RQ. Macrophage activation syndrome as part of systemic juvenile idiopathic arthritis: diagnosis, genetics, pathophysiology and treatment. Genes Immun. 2012;13(4):289\u201398. This timely review article thoughtfully covers the diagnostic criteria, genetic predisposition, the cell type and cytokine pathophysiology, and effective cytokine blockade treatment of MAS in the setting of children with sJIA.","journal-title":"Genes Immun"},{"issue":"1","key":"439_CR28","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1080\/07853890500465189","volume":"38","author":"JW Verbsky","year":"2006","unstructured":"Verbsky JW, Grossman WJ. Hemophagocytic lymphohistiocytosis: diagnosis, pathophysiology, treatment, and future perspectives. Ann Med. 2006;38(1):20\u201331.","journal-title":"Ann Med"},{"issue":"6","key":"439_CR29","doi-asserted-by":"crossref","first-page":"2264","DOI":"10.1172\/JCI43157","volume":"121","author":"EM Behrens","year":"2011","unstructured":"Behrens EM, Canna SW, Slade K, Rao S, Kreiger PA, Paessler M, et al. Repeated TLR9 stimulation results in macrophage activation syndrome-like disease in mice. J Clin Invest. 2011;121(6):2264\u201377. A novel mouse model of MAS on a genetically normal background and not requiring infection was developed and used to study the pathophysiology of MAS.","journal-title":"J Clin Invest"},{"issue":"1","key":"439_CR30","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1097\/MOP.0b013e32834ec9c1","volume":"24","author":"K Risma","year":"2012","unstructured":"Risma K, Jordan MB. Hemophagocytic lymphohistiocytosis: updates and evolving concepts. Curr Opin Pediatr. 2012;24(1):9\u201315.","journal-title":"Curr Opin Pediatr"},{"issue":"5","key":"439_CR31","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1111\/bjh.12293","volume":"161","author":"GN Usmani","year":"2013","unstructured":"Usmani GN, Woda BA, Newburger PE. Advances in understanding the pathogenesis of HLH. 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Using the perforin-deficient murine model of HLH, the authors show that only 10\u201320\u00a0% chimeric WT perforin-sufficient T cells are required to reduce HLH and prolong survival.","journal-title":"Blood"},{"issue":"4","key":"439_CR34","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/j.autrev.2007.11.025","volume":"7","author":"EM Behrens","year":"2008","unstructured":"Behrens EM. Macrophage activation syndrome in rheumatic disease: what is the role of the antigen presenting cell? Autoimmun Rev. 2008;7(4):305\u20138.","journal-title":"Autoimmun Rev"},{"issue":"26","key":"439_CR35","doi-asserted-by":"crossref","first-page":"5184","DOI":"10.1182\/blood-2013-04-495309","volume":"121","author":"CE Terrell","year":"2013","unstructured":"Terrell CE, Jordan MB. Perforin deficiency impairs a critical immunoregulatory loop involving murine CD8(+) T cells and dendritic cells. Blood. 2013;121(26):5184\u201391. 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Demonstration that a fHLH mutation that disrupts transcription factor engagement of a UNC13D transcriptional enhancer in intron 1 results in decreased NK cell cytolytic activity and shows that mutations outside the coding sequence of fHLH genes can alter lymphocyte killing function and contribute to HLH pathogenesis.","DOI":"10.1084\/jem.20131131"},{"issue":"6","key":"439_CR52","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1002\/pbc.24955","volume":"61","author":"Y Qian","year":"2014","unstructured":"Qian Y, Johnson JA, Connor JA, Valencia CA, Barasa N, Schubert J, et al. The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3. Pediatr Blood Cancer. 2014;61(6):1034\u201340. Two specific deep intronic mutations, including the one studied in Cichocki et al. above, and one large 253 kilobase inversion in the UNC13D gene were found to be present in total in about 17\u00a0% of a large (n\u2009=\u20091,709) cohort of North Americans with a suspected diagnosis of HLH.","journal-title":"Pediatr Blood Cancer"},{"issue":"25","key":"439_CR53","doi-asserted-by":"crossref","first-page":"6016","DOI":"10.1182\/blood-2011-12-398958","volume":"119","author":"J Pagel","year":"2012","unstructured":"Pagel J, Beutel K, Lehmberg K, Koch F, Maul-Pavicic A, Rohlfs AK, et al. Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5). Blood. 2012;119(25):6016\u201324. Among a large cohort of STXPB2 mutant HLH patients, clinical differences in disease expression were correlated with specific types of STXBP2 mutations such that patients with exon 15 splice-site mutations presented later in life and had less severe NK cell defects.","journal-title":"Blood"},{"issue":"2","key":"439_CR54","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.virol.2008.08.033","volume":"381","author":"N Selliah","year":"2008","unstructured":"Selliah N, Zhang M, White S, Zoltick P, Sawaya BE, Finkel TH, et al. FOXP3 inhibits HIV-1 infection of CD4 T-cells via inhibition of LTR transcriptional activity. Virology. 2008;381(2):161\u20137.","journal-title":"Virology"},{"issue":"4","key":"439_CR55","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1002\/ijc.2910180405","volume":"18","author":"E Klein","year":"1976","unstructured":"Klein E, Ben-Bassat H, Neumann H, Ralph P, Zeuthen J, Polliack A, et al. 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