Deconstructing the diagnosis of hemophagocytic lymphohistiocytosis using illustrative cases
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Jordan MB, Allen CE, Weitzman S, Filipovich AH, McClain KL (2011) How I treat hemophagocytic lymphohistiocytosis. Blood 118:4041–4052
Chandrakasan S, Filipovich AH (2013) Hemophagocytic lymphohistiocytosis: advances in pathophysiology, diagnosis, and treatment. J Pediatr 163:1253–1259
Sieni E, Cetica V, Hackmann Y, Coniglio ML, Da Ros M, Ciambotti B, Pende D, Griffiths G, Aricò M (2014) Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning. Front Immunol 16:167
George MR (2014) Hemophagocytic lymphohistiocytosis: review of etiologies and management. J Blood Med 12:69–86
Sieni E, Cetica V, Mastrodicasa E, Pende D, Moretta L, Griffiths G, Aricò M (2012) Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity. Cell Mol Life Sci 69:29–40
Sieni E, Cetica V, Santoro A, Beutel K, Mastrodicasa E, Meeths M, Ciambotti B, Brugnolo F, zur Stadt U, Pende D, Moretta L, Griffiths GM, Henter JI, Janka G, Aricò M (2011) Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3. J Med Genet 48:343–352
An O, Gursoy A, Gurgey A, Keskin O (2013) Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients. Protein Sci 22:823–839
Ueda I, Ishii E, Morimoto A, Ohga S, Sako M, Imashuku S (2006) Correlation between phenotypic heterogeneity and gene mutational characteristics in familial hemophagocytic lymphohistiocytosis (FHL). Pediatr Blood Cancer 46:482–488
Zhang K, Jordan MB, Marsh RA, Johnson JA, Kissell D, Meller J, Villanueva J, Risma KA, Wei Q, Klein PS, Filipovich AH (2011) Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. Blood 118:5794–5798
Feldmann J, Callebaut I, Raposo G, Certain S, Bacq D, Dumont C, Lambert N, Ouachée-Chardin M, Chedeville G, Tamary H, Minard-Colin V, Vilmer E, Blanche S, Le Diest F, Fischer A, de Saint BG (2003) Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell 115:461–473
Horne A, Ramme KG, Rudd E, Zheng C, Wali Y, al-Lamki Z, Gürgey A, Yalman N, Nordenskjöld M, Henter JI (2008) Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. Br J Haematol 143:75–83
Meeths M, Entesarian M, Al-Herz W, Chiang SC, Wood SM, Al-Ateeqi W, Almazan F, Boelens JJ, Hasle H, Ifversen M, Lund B, van den Berg JM, Gustafsson B, Hjelmqvist H, Nordenskjöld M, Bryceson YT, Henter JI (2010) Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2. Blood 116:2635–2643
Pachlopnik Schmid J, Canioni D, Moshous D, Touzot F, Mahlaoui N, Hauck F, Kanegane H, Lopez-Granados E, Mejstrikova E, Pellier I, Galicier L, Galambrun C, Barlogis V, Bordigoni P, Fourmaintraux A, Hamidou M, Dabadie A, Le Diest F, Haerynck F, Ouachée-Chardin M, Rohrlich P, Stephan JL, Lenoir C, Rigaud S, Lambert N, Milili M, Schiff C, Chapel H, Picard C, de Saint BG, Blanche S, Fischer A, Latour S (2011) Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). Blood 117:1522–1529
Bryceson YT, Pende D, Maul-Pavicic A, Gilmour KC, Ufheil H, Vraetz T, Chiang SC, Marcenaro S, Meazza R, Bondzio I, Walshe D, Janka G, Lehmberg K, Beutel K, zur Stadt U, Binder N, Arico M, Moretta, Henter JI, Ehl S (2012) A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. Blood 119:2754–2763
Gifford CE, Weingartner E, Villanueva J, Johnson J, Zhang K, Filipovich AH, Bleesing JJ, Marsh RA (2014) Clinical flow cytometric screening of SAP and XIAP expression accurately identifies patients with SH2D1A and XIAP/BIRC4 mutations. Cytometry B Clin Cytom 86:263–271
Marsh RA, Bleesing JJ, Filipovich AH (2010) Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency. J Immunol Methods 362:1–9
Mehta RS, Smith RE (2013) Hemophagocytic lymphohistiocytosis (HLH): a review of literature. Med Oncol 30:740
Jordan MB, Hildeman D, Kappler J, Marrack P (2004) An animal model of hemophagocytic lymphohistiocytosis (HLH): CD8+ T cells and interferon gamma are essential for the disorder. Blood 104:735–743
Rosado FGN, Kim AS (2013) Hemophagocytic lymphohistiocytosis: an update on diagnosis and pathogenesis. Am J Clin Pathol 139:713–727
Gupta A, Tyrrell P, Valani R, Benseler S, Weitzman S, Abdelhaleem (2008) The role of the initial bone marrow aspirate in the diagnosis of hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 51:402–404
Goel S, Polski JM, Imran H (2012) Sensitivity and specificity of bone marrow hemophagocytosis in hemophagocytic lymphohistiocytosis. Ann Clin Lab Sci 42:21–25
Ho C, Yao X, Tian L, Li FY, Podoltsev N, Xu ML (2014) Marrow assessment for hemophagocytic lymphohistiocytosis demonstrates poor correlation with disease probability. Am J Clin Pathol 141:62–71
Chen JH, Fleming MD, Pinkus GS, Pinkus JL, Nichols KE, Mo JQ, Perez-Atayde AR (2010) Pathology of the liver in familial hemophagocytic lymphohistiocytosis. Am J Surg Pathol 34:852–867
Sullivan KE, Delaat CA, Douglas SD, Filipovich AH (1998) Defective natural killer cell function in patients with hemophagocytic lymphohistiocytosis and in first degree relatives. Pediatr Res 44:465–468
Kell DB, Pretorius (2014) Serum ferritin is an important inflammatory disease marker, as it is mainly a leakage product from damaged cells. Metallomics 6:748–773
Henter JI, Horne A, Aricò M, Egeler RM, Filipovich AH, Imashuku S, Ladisch S, McClain K, Webb D, Winiarski J, Janka G (2007) HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 48:124–131
Allen CE, Yu X, Kozinetz CA, McClain KL (2008) Highly elevated ferritin levels and the diagnosis of hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 50:1227–1235
Lehmberg K, McClain KL, Janka GE, Allen CE (2014) Determination of an appropriate cut-off value for ferritin in the diagnosis of hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 61:2101–2103
Schram AM, Campigotto F, Mullally A, Fogerty A, Massarotti E, Neuberg D, Berliner N (2015) Marked hyperferritinemia does not predict for HLH in the adult population. Blood 125:1548–1552
Xu XJ, Tang YM, Song H, Yang SL, Xu WQ, Zhao N, Shi SW, Shen HP, Mao JQ, Zhang LY, Pan BH (2012) Diagnostic accuracy of a specific cytokine pattern in hemophagocytic lymphohistiocytosis in children. J Pediatr 160:984–990
Ibarra MF, Klein-Gitelman M, Morgan E, Proytcheva M, Sullivan C, Morgan G, Pachman LM, O’Gorman MR (2011) Serum neopterin levels as a diagnostic marker of hemophagocytic lymphohistiocytosis syndrome. Clin Vaccine Immunol 18:609–614
McCall CM, Mudali S, Arceci RJ, Small D, Fuller S, Gocke CD, Vuica-Ross M, Burns KH, Borowitz MJ, Duffield AS (2012) Flow cytometric findings in hemophagocytic lymphohistiocytosis. Am J Clin Pathol 137:786–794
Horne A, Trottestam H, Aricò M, Egeler RM, Filipovich AH, Gadner H, Imashuku S, Ladisch S, Webb D, Janka G, Henter JI, Histiocyte Society (2008) Frequency and spectrum of central nervous system involvement in 193 children with haemophagocytic lymphohistiocytosis. Br J Haematol 140:327–335