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Læknablaðið - 15.10.2010, Blaðsíða 25

Læknablaðið - 15.10.2010, Blaðsíða 25
FRÆÐIGREINAR Y F I R L I T 25. Sato T, Endo Y, Matsushita M, et al. Molecular characterization of a novel serine protease involved in activation of the complement system by mannose-binding protein. Int Immunol 1994; 6: 665-9. 26. Stover CM, Thiel S, Thelen M, et al. Two constituents of the initiation complex of the mannan-binding lectin activation pathway of complement are encoded by a single structural gene. J Immunol 1999; 162: 3481-90. 27. Takahashi M, Endo Y, Fujita T, et al. A truncated form of mannose-binding lectin-associated serine protease (MASPJ-2 expressed by altemative polyadenylation is a component of the lectin complement pathway. Int Immunol 1999; 11: 859- 63. 28. Stengaard-Pedersen K, Thiel S, Gadjeva M, et al. Inherited deficiency of mannan-binding lectin-associated serine protease 2. N Engl J Med 2003; 349: 554-60. 29. Lozano F, Suarez B, Munoz A, et al. Novel MASP2 variants detected among North African and Sub-Saharan individuals. Tissue Antigens 2005; 66:131-5. 30. Stover C, Endo Y, Takahashi M, et al. The human gene for mannan-binding lectin-associated serine protease-2 (MASP- 2), the effector component of the lectin route of complement activation, is part of a tightly linked gene cluster on chromosome lp36.2-3. Genes Immun 2001; 2:119-27. 31. Thiel S, Steffensen R, Christensen IJ, et al. Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms. Genes Immun 2007; 8:154-63. 32. Thiel S, Kolev M, Degn S, et al. Polymorphisms in mannan- binding lectin (MBL)-associated serine protease 2 affect stability, binding to MBL, and enzymatic activity. J Immunol 2009; 182: 2939-47. 33. Cedzynski M, Szemraj J, Swierzko AS, et al. Mannan-binding lectin insufficiency in children with recurrent infections of the respiratory system. Clin Exp Immunol 2004; 136: 304-11. 34. Stover C, Barrett S, Lynch NJ, et al. Functional MASP2 single nucleotide polymorphism plays no role in psoriasis. Br J Dermatol 2005; 152:1313-5. 35. Olesen HV, Jensenius JC, Steffensen R, et al. The mannan- binding lectin pathway and lung disease in cystic fibrosis- -disfunction of mannan-binding lectin-associated serine protease 2 (MASP-2) may be a major modifier. Clin Immunol 2006; 121: 324-31. 36. Cedzynski M, Atkinson AP, St Swierzko A, et al. L-ficolin (ficolin-2) insufficiency is associated with combined allergic and infectious respiratory disease in children. Mol Immunol 2009; 47: 415-9. 37. Garcia-Laorden MI, Sole-Violan J, Rodriguez de Castro F, et al. Mannose-binding lectin and mannose-binding lectin- associated serine protease 2 in susceptibility, severity, and outcome of pneumonia in adults. J Allergy Clin Immunol 2008; 122: 368-74, 374 el-2. 38. Sorensen R, Thiel S, Jensenius JC. Mannan-binding-lectin- associated serine proteases, characteristics and disease associations. Springer Semin Immunopathol 2005; 27: 299- 319. 39. Endo Y, Matsushita M, Fujita T. Role of ficolin in innate immunity and its molecular basis. Immunobiology 2007; 212: 371-9. 40. Garred P, Honore C, Ma YJ, et al. MBL2, FCNl, FCN2 and FCN3-The genes behind the initiation of the lectin pathway of complement. Mol Immunol 2009; 46: 2737-44. 41. Munthe-Fog L, Hummelshoj T, Honore C, et al. Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency. N Engl J Med 2009; 360: 2637-44. 42. Munthe-Fog L, Hummelshoj T, Ma YJ, et al. Characterization of a polymorphism in the coding sequence of FCN3 resulting in a Ficolin-3 (Hakata antigen) deficiency state. Mol Immunol 2008; 45: 2660-6. 43. Saevarsdottir S, Vikingsdottir T, Vikingsson A, et al. Low mannose binding lectin predicts poor prognosis in patients with early rheumatoid arthritis. A prospective study. J Rheumatol 2001; 28: 728-34. 44. Seelen MA, Roos A, Wieslander J, et al. Functional analysis of the classical, altemative, and MBL pathways of the complement system: standardization and validation of a simple ELISA. J Immunol Methods 2005; 296:187-98. 45. Aittoniemi J, Baer M, Soppi E, et al. Mannan binding lectin deficiency and concomitant immunodefects. Arch Dis Child 1998; 78: 245-8. 46. Hoeflich C, Unterwalder N, Schuett S, et al. Clinical manifestation of mannose-binding lectin deficiency in adults independent of concomitant immunodeficiency. Hum Immunol 2009; 70: 809-12. 47. Notarangelo L, Casanova JL, Conley ME, et al. Primary immunodeficiency diseases: an update from the Intemational Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005. J Allergy Clin Immunol 2006; 117: 883-96. 48. Shi L, Takahashi K, Dundee J, et al. Mannose-binding lectin-deficient mice are susceptible to infection with Staphylococcus aureus. J Exp Med 2004; 199:1379-90. 49. Gadjeva M, Paludan SR, Thiel S, et al. Mannan-binding lectin modulates the response to HSV-2 infection. Clin Exp Immunol 2004; 138: 304-11. 50. Stuart LM, Takahashi K, Shi L, et al. Mannose-binding lectin- deficient mice display defective apoptotic cell clearance but no autoimmune phenotype. J Immunol 2005; 174: 3220-6. 51. Ma Y, Uemura K, Oka S, et al. Antitumor activity of mannan- binding protein in vivo as revealed by a vims expression system: mannan-binding proteindependent cell-mediated cytotoxicity. Proc Natl Acad Sci U S A1999; 96: 371-5. 52. Takahashi K. Lessons leamed from murine models of mannose-binding lectin deficiency. Biochem Soc Trans 2008; 36:1487-90. 53. Collard CD, Shernan SK, Fox AA, et al. The MBL2 'LYQA secretor' haplotype is an independent predictor of postoperative myocardial infarction in whites undergoing coronary artery bypass graft surgery. Circulation 2007; 116(11 Suppl): 1106-12. 54. Valdimarsson H, Vikingsdottir T, Bang P, et al. Human plasma-derived mannose-binding lectin: a phase I safety and pharmacokinetic study. Scand J Immunol 2004; 59: 97-102. 55. Valdimarsson H. Infusion of plasma-derived mannan- binding lectin (MBL) into MBL-deficient humans. Biochem Soc Trans 2003; 31: 768-9. 56. Fujita T. Evolution of the lectin-complement pathway and its role in innate immunity. Nat Rev Immunol 2002; 2: 346-53. 57. Tumer MW. The role of mannose-binding lectin in health and disease. Mol Immunol 2003; 40:423-9. Inherited deficiency of the initiator molecules of the lectin-complement pathway The complement system is an important immune system. Its activation results in membranolytic elimination of microbes and opsonization. The classical, alternative and lectin pathways (LP) activate complement. Either mannan- binding lectin (MBL), ficolin-1, ficolin-2 or ficolin-3 initiate the LP through associated serine protease (MASP-2) after binding to microorganisms’surface carbohydrate patterns. Genetic polymorphisms behind MBL deficiency Bjarnadottir H, Ludviksson BR are rather common. Numerous studies indicate that MBL deficiency is a risk factor for invasive and recurrent infections, especially when other immune systems are immature, deficient or compromised. Research in ficolins is limited but last year ficolin-3 deficiency was described. This review focuses on these recently WHO defined immunodeficiencies. Inherited deficiency of the initiator molecules of the lectin-complement pathway. /ce/ Med J 2010; 96; 611-7 Key words: innate immunity, mannan-binding lectin (MBL), ficolins, lectin pathway (LP), complement activation. Correspondance: Björn Rúnar Lúðviksson, bjornlud@landspitali.is >■ CC < 2 2 D 10 X V) -I o z m Barst: 26. október 2009, - samþykkt til birtingar: 9. september 2010 Hagsmunatengsl: Engin LÆKNAblaðið 2010/96 61
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