Skip to content

hlh_references.md

Latest commit

 

History

History
131 lines (66 loc) · 11.9 KB

hlh_references.md

File metadata and controls

131 lines (66 loc) · 11.9 KB
Raw

References: Hemophagocytic Lymphohistiocytosis (HLH) QSP Model

1. Foundational Pathophysiology & Diagnosis

  1. Henter JI, Horne A, Aricó M, et al. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48(2):124-131. https://pubmed.ncbi.nlm.nih.gov/16937360/

  2. Farquhar JW, Claireaux AE. Familial haemophagocytic reticulosis. Arch Dis Child. 1952;27(136):519-525. https://pubmed.ncbi.nlm.nih.gov/13008683/ (Original description of primary HLH)

  3. Filipovich AH. Hemophagocytic lymphohistiocytosis (HLH) and related disorders. Hematology Am Soc Hematol Educ Program. 2009:127-131. https://pubmed.ncbi.nlm.nih.gov/20008188/

  4. Crayne CB, Albeituni S, Nichols KE, Cron RQ. The immunology of macrophage activation syndrome. Front Immunol. 2019;10:119. https://pubmed.ncbi.nlm.nih.gov/30809224/

  5. La Rosée P, Horne A, Hines M, et al. Recommendations for the management of hemophagocytic lymphohistiocytosis in adults. Blood. 2019;133(23):2465-2477. https://pubmed.ncbi.nlm.nih.gov/30992265/

  6. Janka GE, Lehmberg K. Hemophagocytic syndromes — an update. Blood Rev. 2014;28(4):135-142. https://pubmed.ncbi.nlm.nih.gov/24792044/

  7. Ramos-Casals M, Brito-Zerón P, López-Guillermo A, et al. Adult haemophagocytic syndrome. Lancet. 2014;383(9927):1503-1516. https://pubmed.ncbi.nlm.nih.gov/24290661/

  8. Schram AM, Berliner N. How I treat hemophagocytic lymphohistiocytosis in the adult patient. Blood. 2015;125(19):2908-2914. https://pubmed.ncbi.nlm.nih.gov/25762178/

2. Genetics & Molecular Mechanisms (Primary HLH)

  1. Stepp SE, Dufourcq-Lagelouse R, Le Deist F, et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science. 1999;286(5446):1957-1959. https://pubmed.ncbi.nlm.nih.gov/10583959/

  2. Feldmann J, Callebaut I, Raposo G, et al. Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell. 2003;115(4):461-473. https://pubmed.ncbi.nlm.nih.gov/14622599/

  3. zur Stadt U, Schmidt S, Kasper B, et al. Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. J Exp Med. 2005;202(7):1041-1049. https://pubmed.ncbi.nlm.nih.gov/16216887/

  4. Cote M, Menager MM, Burgess A, et al. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. J Clin Invest. 2009;119(12):3765-3773. https://pubmed.ncbi.nlm.nih.gov/19884660/

  5. Ménasché G, Pastural E, Feldmann J, et al. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet. 2000;25(2):173-176. https://pubmed.ncbi.nlm.nih.gov/10835631/

  6. Nichols KE, Harkin DP, Levitz S, et al. Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. Proc Natl Acad Sci USA. 1998;95(23):13765-13770. https://pubmed.ncbi.nlm.nih.gov/9811875/

  7. Marsh RA, Villanueva J, Kim MO, et al. A knowledgebase for the molecular defects, histopathology, and management of familial hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2010;54(3):518-520. https://pubmed.ncbi.nlm.nih.gov/19844984/

3. IFN-γ & Cytokine Storm Biology

  1. Jordan MB, Hildeman D, Kappler J, Marrack P. An animal model of hemophagocytic lymphohistiocytosis (HLH): CD8+ T cells and interferon gamma are essential for the disorder. Blood. 2004;104(3):735-743. https://pubmed.ncbi.nlm.nih.gov/15069018/

  2. Pachlopnik Schmid J, Ho CH, Chrétien F, et al. Neutralization of IFNγ defeats haemophagocytosis in LCMV-infected perforin- and Rab27a-deficient mice. EMBO Mol Med. 2009;1(2):112-124. https://pubmed.ncbi.nlm.nih.gov/20049711/

  3. Zoller EE, Lykens JE, Terrell CE, et al. Hemophagocytosis causes a consumptive anemia of inflammation. J Exp Med. 2011;208(6):1203-1214. https://pubmed.ncbi.nlm.nih.gov/21606507/

  4. Weiss ES, Girard-Guyonvarc'h C, Holzinger D, et al. Interleukin-18 diagnostically distinguishes and pathogenically promotes human and murine macrophage activation syndrome. Blood. 2018;131(13):1442-1455. https://pubmed.ncbi.nlm.nih.gov/29326098/

  5. Bracaglia C, de Graaf K, Pires Marafon D, et al. Elevated circulating levels of interferon-γ and interferon-γ-induced chemokines characterise patients with macrophage activation syndrome complicating systemic juvenile idiopathic arthritis. Ann Rheum Dis. 2017;76(1):166-172. https://pubmed.ncbi.nlm.nih.gov/27178030/

4. Macrophage Activation Syndrome (MAS) / Secondary HLH

  1. Ravelli A, Minoia F, Davì S, et al. 2016 Classification Criteria for Macrophage Activation Syndrome Complicating Systemic Juvenile Idiopathic Arthritis. Ann Rheum Dis. 2016;75(3):481-489. https://pubmed.ncbi.nlm.nih.gov/26994596/

  2. Minoia F, Davì S, Horne A, et al. Clinical features, treatment, and outcome of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis. Arthritis Rheum. 2014;66(11):3160-3169. https://pubmed.ncbi.nlm.nih.gov/25087800/

  3. Schulert GS, Grom AA. Macrophage activation syndrome and cytokine-directed therapies. Best Pract Res Clin Rheumatol. 2014;28(2):277-292. https://pubmed.ncbi.nlm.nih.gov/25065583/

  4. Lerkvaleekul B, Vilaiyuk S. Macrophage activation syndrome: early diagnosis is key. Open Access Rheumatol. 2018;10:117-128. https://pubmed.ncbi.nlm.nih.gov/30188655/

5. Diagnosis & Scoring

  1. Fardet L, Galicier L, Lambotte O, et al. Development and validation of the HScore, a score for the diagnosis of reactive hemophagocytic syndrome. Arthritis Rheumatol. 2014;66(9):2613-2620. https://pubmed.ncbi.nlm.nih.gov/24782338/

  2. Debaugnies F, Mahadeb B, Ferster A, et al. Performances of the H-Score for diagnosis of hemophagocytic lymphohistiocytosis in adult and pediatric patients. Am J Clin Pathol. 2016;145(6):862-870. https://pubmed.ncbi.nlm.nih.gov/27247358/

  3. Jordan MB, Allen CE, Weitzman S, et al. How I treat hemophagocytic lymphohistiocytosis. Blood. 2011;118(15):4041-4052. https://pubmed.ncbi.nlm.nih.gov/21828139/

  4. Lehmberg K, Pink I, Eulenburg C, et al. Differentiating macrophage activation syndrome in systemic juvenile idiopathic arthritis from other forms of hemophagocytic lymphohistiocytosis. J Pediatr. 2013;162(6):1245-1251. https://pubmed.ncbi.nlm.nih.gov/23312678/

6. Treatment: HLH-2004 Protocol (DEX + ETOP + CsA)

  1. Bergsten E, Horne A, Aricó M, et al. Confirmed efficacy of etoposide and dexamethasone in HLH treatment: long-term results of the cooperative HLH-2004 study. Blood. 2017;130(25):2728-2738. https://pubmed.ncbi.nlm.nih.gov/28951371/

  2. Trottestam H, Horne A, Aricó M, et al. Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol. Blood. 2011;118(17):4577-4584. https://pubmed.ncbi.nlm.nih.gov/21900192/

  3. Lehmberg K, Sprekels B, Nichols KE, et al. Malignancy-associated haemophagocytic lymphohistiocytosis in children and adolescents. Br J Haematol. 2015;170(4):539-549. https://pubmed.ncbi.nlm.nih.gov/25851091/

7. Emapalumab (Anti-IFN-γ)

  1. Locatelli F, Jordan MB, Allen C, et al. Emapalumab in Children with Primary Hemophagocytic Lymphohistiocytosis. N Engl J Med. 2020;382(19):1811-1822. https://pubmed.ncbi.nlm.nih.gov/32374962/

  2. de Min C, Piga S, Pirmo M, et al. Emapalumab: targeting interferon γ in primary hemophagocytic lymphohistiocytosis. Expert Rev Clin Pharmacol. 2022;15(1):13-22. https://pubmed.ncbi.nlm.nih.gov/35012418/

  3. Lounder DT, Bin Q, de Min C, Jordan MB. Treatment of refractory hemophagocytic lymphohistiocytosis with emapalumab despite severe concurrent infections. Blood Adv. 2019;3(1):47-50. https://pubmed.ncbi.nlm.nih.gov/30617216/

8. Novel Therapies (Anakinra, Ruxolitinib, Tocilizumab)

  1. Shakoory B, Carcillo JA, Chatham WW, et al. Interleukin-1 Receptor Blockade Is Associated With Reduced Mortality in Sepsis Patients With Features of Macrophage Activation Syndrome. Crit Care Med. 2016;44(2):275-281. https://pubmed.ncbi.nlm.nih.gov/26584195/

  2. Daver N, McClain K, Allen CE, et al. A consensus review on malignancy-associated hemophagocytic lymphohistiocytosis in adults. Cancer. 2017;123(17):3229-3240. https://pubmed.ncbi.nlm.nih.gov/28621820/

  3. Ruscitti P, Cipriani P, Masedu F, et al. Biologic agents and mortality in rheumatoid arthritis with concomitant MAS. Clin Exp Rheumatol. 2019;37(4):642-648. https://pubmed.ncbi.nlm.nih.gov/30620271/

  4. Ahmed A, Merrill SA, Alsawah F, et al. Ruxolitinib in adult patients with secondary haemophagocytic lymphohistiocytosis: an open-label, single-centre, pilot trial. Lancet Haematol. 2019;6(12):e630-e637. https://pubmed.ncbi.nlm.nih.gov/31582355/

  5. Broglie L, Pommert L, Rao S, et al. Ruxolitinib for treatment of refractory hemophagocytic lymphohistiocytosis. Blood Adv. 2017;1(19):1560-1563. https://pubmed.ncbi.nlm.nih.gov/29296793/

  6. Janka GE. Hemophagocytic syndromes. Blood Rev. 2007;21(5):245-253. https://pubmed.ncbi.nlm.nih.gov/17590250/

9. Hematopoietic Stem Cell Transplantation

  1. Ouachée-Chardin M, Elie C, de Saint Basile G, et al. Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: a single-center report of 48 patients. Pediatrics. 2006;117(4):e743-750. https://pubmed.ncbi.nlm.nih.gov/16567396/

  2. Marsh RA, Kim MO, Liu C, et al. An intermediate alemtuzumab schedule reduces the incidence of mixed chimerism following reduced-intensity conditioning hematopoietic cell transplantation for hemophagocytic lymphohistiocytosis. Biol Blood Marrow Transplant. 2013;19(11):1625-1631. https://pubmed.ncbi.nlm.nih.gov/23954779/

10. PK/PD & Pharmacometrics

  1. Veal GJ, Cole M, Chinnaswamy G, et al. Cyclophosphamide pharmacokinetics and pharmacodynamics in paediatric oncology patients. Br J Clin Pharmacol. 2004;57(5):541-545. https://pubmed.ncbi.nlm.nih.gov/15089810/

  2. Ohlsson M, Karlsson J, Abrahamsson J, et al. Cyclosporine A increases bone mineral density in children with hemophagocytic lymphohistiocytosis. J Clin Immunol. 2016;36(4):336-343. https://pubmed.ncbi.nlm.nih.gov/26971026/

  3. Yamamoto H, Hotta T, Kiyoi H, et al. Population pharmacokinetics of etoposide in patients with hematological malignancies. Cancer Sci. 2013;104(7):928-935. https://pubmed.ncbi.nlm.nih.gov/23531199/

11. Epidemiology & Prognosis

  1. Machowicz R, Janka G, Wiktor-Jedrzejczak W. Similar but not the same: Differential diagnosis of HLH and sepsis. Crit Rev Oncol Hematol. 2017;114:1-12. https://pubmed.ncbi.nlm.nih.gov/28477739/

  2. Schram AM, Comstock P, Campo M, et al. Haemophagocytic lymphohistiocytosis in adults: a multicentre case series over 7 years. Br J Haematol. 2016;172(3):412-419. https://pubmed.ncbi.nlm.nih.gov/26455846/

  3. Kaito K, Kobayashi M, Katayama T, et al. Prognostic factors of hemophagocytic syndrome in adults: analysis of 34 cases. Eur J Haematol. 1997;59(4):247-253. https://pubmed.ncbi.nlm.nih.gov/9365479/

12. COVID-19 / sHLH / Cytokine Release Syndrome

  1. Mehta P, McAuley DF, Brown M, et al. COVID-19: consider cytokine storm syndromes and immunosuppression. Lancet. 2020;395(10229):1033-1034. https://pubmed.ncbi.nlm.nih.gov/32192578/

  2. Schulert GS, Zhang M, Fall N, 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(7):1180-1188. https://pubmed.ncbi.nlm.nih.gov/26598576/

13. Systems Biology / Mathematical Modeling

  1. Eftimie R, Gillard JJ, Cantrell DA. Mathematical models for immunology: Current state of the art and future research directions. Bull Math Biol. 2016;78(10):2091-2134. https://pubmed.ncbi.nlm.nih.gov/27714570/

  2. Karlebach G, Shamir R. Modelling and analysis of gene regulatory networks. Nat Rev Mol Cell Biol. 2008;9(10):770-780. https://pubmed.ncbi.nlm.nih.gov/18797474/