medigraphic.com
ISSN 1405-1699 (Impreso)
Órgano Oficial del Colegio Mexicano de Alergia, Asma e Inmunología Pediátrica y de la Asociación Latinoamericana de Pediatría

2013, Número 3

<< Anterior

Alerg Asma Inmunol Pediatr 2013; 22 (3)


Linfohistiocitosis hemofagocítica y otros trastornos asociados. Pertinencia del uso de gamaglobulina

Canell PR, Suárez AR, Rodríguez TJ, Hernández BVM, Vázquez GRE, Cerda RS

Idioma: Español
Referencias bibliográficas: 63
Paginas: 114-120
Archivo PDF: 133.87 Kb.


RESUMEN

Las enfermedades autoinmunes se encuentran caracterizadas por una disregulación inmunológica. Éstas, en esencia, se presentan por la errónea interpretación del sistema inmune del paciente hacia un antígeno propio en donde se monta una respuesta de hipersensibilidad que puede involucrar prácticamente a cualquiera de los mecanismos de Gel-Coombs. Existen diversos tipos de síndromes hemofagocíticos; esta entidad, independientemente de su origen, posee una alta mortalidad y no existe una terapéutica estandarizada a nivel mundial. Diversos elementos han sido utilizados para tratar de detener la hemofagocitosis, tales como: etopósido, glucocorticoides, ciclosporina e incluso gammaglobulina, por mencionar algunos. En la práctica, algunos modelos de enfermedad son más proclives que otros, como es el caso de la enfermedad de Still que puede derivar en un síndrome hemofagocítico, por lo que es importante en el abordaje de estos pacientes tomar en cuenta su comportamiento y las posibilidades terapéuticas.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Henter JI, Arico M, Elinder G et al. Familial hemophagocytic lymphohistiocytosis. Primaryhemophagocytic lymphohistiocytosis. Hematol Oncol Clin North Am. 1998; 12(2): 417-433.

  2. Henter JI, Horne A, Arico M et al. HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007; 48(2): 124-131.

  3. Farquhar JW, Claireaux AE. Familial haemophagocytic reticulosis. Arch Dis Child. 1952; 27(136): 519-525.

  4. Pantanowitz L, Dezube BJ. Editorial comment: hemophagocytic syndrome–an HIV-associatedquagmire. AIDS Read. 2007; 17(10): 500-502.

  5. Carter MJ. A rationale for using steroids in the treatment of severe cases of H5N1 avian influenza. J Med Microbiol. 2007; 56(Pt 7): 875-883.

  6. Filipovich AH. Life-threatening hemophagocytic syndromes: current outcomes with hematopoietic stem cell transplantation. Pediatr Transplant. 2005; 9(Suppl 7): 87-91.

  7. Stepp SE, Dufourcq-Lagelouse R, Le Deist F et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science. 1999; 286(5446): 1957-1959.

  8. Lowin B, Beermann F, Schmidt A et al. A null mutation in the perforin gene impairs cytolytic T lymphocyte- and natural killer cell-mediated cytotoxicity. Proc Natl Acad Sci USA. 1994; 91(24): 11571-5.

  9. Jordan MB, Hildeman D, Kappler J et al. An animal model of hemophagocytic lymphohistiocytosis (HLH): CD8fl T cells and interferon gamma are essential for the disorder. Blood. 2004; 104(3): 735-743.

  10. Ueda I, Kurokawa Y, Koike K et al. Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations. Am J Hematol. 2007; 82(6): 427-432.

  11. Trizzino A, zur Stadt U, Ueda I et al. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. J Med Genet. 2008; 45(1): 15-21.

  12. Risma KA, Frayer RW, Filipovich AH et al. Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis. J Clin Invest. 2006; 116(1): 182-192.

  13. Molleran Lee S. Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50Delt mutation. J Med Genet. 2004; 41: 137-144.

  14. Busiello R, Fimiani G, Miano MG et al. A91V perforin variation in healthy subjects and FHLH patients. Int J Immunogenet. 2006; 33(2): 123-125.

  15. Zhang K, Johnson JA, Biroschak J et al. Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects. Int J Immunogenet. 2007; 34(4): 231-233.

  16. Voskoboinik I, Smyth MJ, Trapani JA. Perforin-mediated target-cell death and immune homeostasis. Nat Rev Immunol. 2006; 6(12): 940-952.

  17. Feldmann J, Callebaut I, Raposo G et al. Munc13-4 is essential for cytolytic granules fusión and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell. 2003; 115(4): 461-473.

  18. Crozat K, Hoebe K, Ugolini S et al. Jinx, anMCMVsusceptibility phenotype caused by disruption of Unc13d: a mouse model of type 3 familial hemophagocytic lymphohistiocytosis. J Exp Med. 2007; 204(4): 853-863.

  19. 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. Hum Mol Genet. 2005; 14(6): 827-834.

  20. Bryceson YT, Rudd E, Zheng C et al. Defective cytotoxic lymphocyte degranulation in syntaxin- 11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. Blood. 2007; 110(6): 1906-1915.

  21. Arneson LN, Brickshawana A, Segovis CM et al. Cutting edge: syntaxin 11 regulates lymphocyte- mediated secretion and cytotoxicity. J Immunol. 2007; 179(6): 3397-3401.

  22. Zur Stadt U, Beutel K, Kolberg S et al. Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. Hum Mutat. 2006; 27(1): 62-68.

  23. Rudd E, Goransdotter Erickson K, Zheng C et al. Spectrum and clinical implications of syntaxin11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies. J Med Genet. 2006; 43(4): e14.

  24. Ohadi M, Lalloz MR, Sham P et al. Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3-22 by homozygosity mapping. Am J Hum Genet. 1999; 64(1): 165-171.

  25. Westbroek W, Adams D, Huizing M et al. Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype. J Invest Dermatol. 2007; 127(11): 2674-2677.

  26. Bizario JC, Feldman J, Castro FA et al. Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene. J Clin Immunol. 2004; 24(4): 397-410.

  27. Enders A, Zieger B, Schwarz K et al. Lethal hemophagocytic lymphohistiocytosis in Hermansky- Pudlak syndrome type II. Blood. 2006; 108(1): 81-87.

  28. Nichols KE. X-linked lymphoproliferative disease. Immunol Allergy Clin North Am. 2002; 22: 319-337.

  29. Rigaud S, Fondaneche MC, LambertN et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature. 2006; 444(7115): 110-114.

  30. Nichols KE. X-linked lymphoproliferative disease: genetics and biochemistry. Rev Immunogenet. 2000; 2(2): 256-266.

  31. Arico M, Bettinelli A, Maccario R et al. Hemophagocytic lymphohistiocytosis in a patient with deletion of 22q11.2. Am J Med Genet. 1999; 87(4): 329-330.

  32. Hisano M, Sugawara K, Tatsuzawa O et al. Bacteria-associated haemophagocytic síndrome and septic pulmonary embolism caused by Burkholderia cepacia complex in a woman with chronic granulomatous disease. J Med Microbiol. 2007; 56(Pt 5): 702-705.

  33. Schmid JM, Junge SA, Hossle JP et al. Transient hemophagocytosis with deficient celular cytotoxicity, monoclonal immunoglobulin M gammopathy, increased T-cell numbers, and hypomorphic NEMO mutation. Pediatrics. 2006; 117(5): e1049-1056.

  34. Tapisiz A, Belet N, Ciftci E et al. Hemophagocytic lymphohistiocytosis associated with visceral eishmaniasis. J Trop Pediatr. 2007; 53(5): 359-361.

  35. Tunc B, Ayata A. Hemophagocytic syndrome: a rare life-threatening complication of visceral leishmaniasis in a young boy. Pediatr Hematol Oncol. 2001; 18(8): 531-536.

  36. Imashuku S. Clinical features and treatment strategies of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. Crit Rev Oncol Hematol. 2002; 44(3): 259-272.

  37. Janka GEA. Clinical aspects and therapy of hemophagocytic lymphohistiocytosis. 2005; 353.

  38. Knorr B, Kessler U, Poschl J. A haemophagocytic lymphohistiocytosis (HLH)-like picture following breastmilk transmitted cytomegalovirus infection in a preterm infant. Scand J Infect Dis. 2007; 39(2): 173-176.

  39. Astigarraga I, Prats JM, Navajus A. Near fatal cerebellar swelling in familial hemophagocytic lymphohistiocytosis. Pediatr Neurol. 2004; 30(5): 361-364.

  40. Hoang MP, Dawson DB, Rogers ZR. Polymerase chain reaction amplification of archival material for Epstein-Barr virus, cytomegalovirus, human herpesvirus 6, and parvovirus B19 in children with bone marrow hemophagocytosis. Hum Pathol. 1998; 29(10): 1074–1077.

  41. Re A, Tacchetti F, Borlenghi E. Fatal hemophagocytic syndrome related to active human herpesvirus-8/Kaposi sarcoma-associated herpesvirus infection in human immunodeficiency virus-negative, non-transplant patients without related malignancies. Eur J Haematol. 2007; 78(4): 361-364.

  42. Takenaka H, Kishimoto S, Ichikawa R. Virus-associated haemophagocytic syndrome caused by rubella in an adult. Br J Dermatol. 1998; 139(5): 877-880.

  43. Rouphael NG, Talati NJ, Vaughan C. Infections associated with haemophagocytic syndrome. Lancet Infect Dis. 2007; 7(12): 814-22.

  44. AleemA, AlAmoudi S, Al-Moshhadani S et al. Haemophagocytic syndrome associated with hepatitis-B virus infection responding to etoposide. Clin Lab Haematol. 2005; 27(6): 395-398.

  45. Brastianos PK, Swanson JW, Torbenson M et al. Tuberculosis-associated haemophagocytic syndrome. Lancet Infect Dis. 2006; 6(7): 447–454.

  46. Brastianos PK, Swanson JW, Torbenson M et al. Tuberculosis-associated haemophagocytic syndrome. Lancet Infect Dis. 2006; 6(7): 447-454.

  47. Bhatia S, Bauer F, Bilgrami SA. Candidiasis-associated hemophagocytic lymphohistiocytosis in a patient infected with human immunodeficiency virus. Clin Infect Dis. 2003; 37(11): e161-166.

  48. Delcroix G, Vanstraelen G, Hustinx R et al. Aspergillus pericarditis with cardiac tamponade and haemophagocytic syndrome: a non-classical case of immunodeficiency. RevMed Liege. 2006; 61(10): 713–8 [in French].

  49. Sanchez A, Celaya AK, Victorio A. Histoplasmosis-associated hemophagocytic syndrome: a case report. AIDS Read. 2007; 17(10): 496-499.

  50. Smyth MJ, Thia KY, Street SE et al. Perforin-mediated cytotoxicity is critical for surveillance of spontaneous lymphoma. J Exp Med. 2000; 192(5): 755-760.

  51. Clementi R, Locatelli F, Dupre L et al. A proportion of patients with lymphoma may harbor mutations of the perforin gene. Blood. 2005; 105(11): 4424-4428.

  52. Santoro A, Cammella S, Trizzino A et al. A single amino acid change A91V in perforin: a novel, frequent predisposing factor to childhood acute lymphoblastic leukemia? Haematologica. 2005; 90(5): 697-698.

  53. Mehta PA, Davies SM, Kumar A et al. Perforin polymorphism A91V and susceptibility to B-precursor childhood acute lymphoblastic leukemia: a report from the Children’s Oncology Group. Leukemia. 2006; 20(9): 1539-1541.

  54. Horne A, Janka G, Maarten Egeler R et al. Haematopoietic stem cell transplantation in haemophagocytic lymphohistiocytosis. Br J Haematol. 2005; 129(5): 622-630.

  55. Jabado N, de Graeff-Meeder ER, Cavazzana-Calvo M et al. Treatment of familial hemophagocytic lymphohistiocytosis with bone marrow transplantation from HLA genetically nonidentical donors. Blood. 1997; 90(12): 4743-4748.

  56. Ouachee-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.

  57. Durken M, Horstmann M, Bieling P et al. Improved outcome in haemophagocytic lymphohistiocytosis after bone marrow transplantation from related and unrelated donors: a single centre experience of 12 patients. Br J Haematol. 1999; 106(4): 1052-1058.

  58. Cooper N, Rao K, Gilmour K et al. Stem cell transplantation with reduced-intensity conditioning for hemophagocytic lymphohistiocytosis. Blood. 2006; 107(3): 1233-1236.

  59. Seo YI, Park R, Choi TY et al. A case of therapy-related acute monocytic leukemia following low-dose of etoposide treatment for hemophagocytic lymphohistiocytosis. Korean J Lab Med. 2007; 27(4): 244-247 [in Korean].

  60. Sun S, Rao NL, Venable J et al. TLR7/9 antagonists as therapeutics for immunemediated inflammatory disorders. Inflamm Allergy Drug Targets. 2007; 6(4): 223-235.

  61. Henter JI, Samuelsson-Horne A, Arico M et al. Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation. Blood. 2002; 100(7): 2367-2373.

  62. Emmenegger U, Spaeth PJ, Neftel KA. Intravenous immunoglobulin for hemophagocytic lymphohistiocytosis? Journal of Clinical Oncology 2002; 20(2): 599-601.

  63. Rajagopala S, Singh N. Diagnosing and treating hemophagocytic lymphohistiocytosis in the tropics: systematic review from the Indian subcontinent. Acta Med Acad. 2012; 41(2): 161-174.




2020     |     www.medigraphic.com