Læknablaðið - 15.10.2010, Page 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