Inherited mannose-binding lectin deficiency as evidenced by genetic and immunologic analyses: Association with severe recurrent infections

Annals of Allergy, Asthma and Immunology

Volumn 91, Issue 4, 2003, Pages 386-392

  Martin, Patricia ^a   Lerner, Aaron ^a   Johnson, Lisa ^a   Lerner, Danica L ^a   Haraguchi, Soichi ^a   Good, Robert A ^a   Day, Noorbibi K ^a,b  

^a UNIVERSITY OF SOUTH FLORIDA   (United States)

^b UNIVERSITY OF SOUTH FLORIDA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACUTE PHASE PROTEIN; COMPLEMENT COMPONENT C4B; MANNOSE BINDING LECTIN; MANNOSE BINDING PROTEIN; UNCLASSIFIED DRUG;

ACUTE PHASE RESPONSE; ADULT; ALLELE; ARTICLE; CASE REPORT; CHRONIC DISEASE; COMPLEMENT ACTIVATION; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HOST RESISTANCE; HUMAN; IMMUNOGLOBULIN DEPOSITION; IMMUNOPATHOLOGY; INFECTION COMPLICATION; INFECTION SENSITIVITY; MANNOSE BINDING LECTIN DEFICIENCY; OPSONIZATION; PHAGOCYTOSIS; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DEFICIENCY; RECURRENT INFECTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STRUCTURAL GENE;

EID: 0142027214     PISSN: 10811206     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1081-1206(10)61686-9     Document Type: Article

References (40)

1. Uthaisangsook S, Day NK, Bahna SL, Good RA, Haraguchi S. Innate immunity and its role against infections. Ann Allergy Asthma Immunol. 2002;88:253-264.
2. Holmskov U, Malhotra R, Sim RB, Jensenius JC. Collectins: collagenous C-type lectins of the innate immune defense system. Immunol Today. 1994;15:67-74.
3. Babovic-Vuksanovic D, Snow K, Ten RM. Mannose-binding lectin (MBL) deficiency. Variant alleles in a midwestern population of the United States. Ann Allergy Asthma Immunol. 1999;82:134-141.
4. Garred P, Brygge K, Sorensen CH, Madsen HO, Thiel S, Svejggard A. Mannan-binding protein-levels in plasma and upper airways secretions and frequency of genotypes in children with recurrence of otitis media. Clin Exp Immunol. 1993;94: 99-104.
5. Malhotra R, Willis AC, Lopez Bernal A, Thiel S, Sim RB. Mannan-binding protein levels in human amniotic fluid during gestation and its interaction with collectin receptor from amnion cells. Immunology. 1994;82:439-444.
6. Kilpatrick DC. Mannan-binding lectin and its role in innate immunity. Transfus Med. 2002;12:335-351.
7. Super M, Lu J, Thiel S, Levinsky RJ, Turner MW. Association of low levels of mannan-binding protein with a common defect of opsonisation. Lancet. 1989;2:1236-1239.
8. Sumiya M, Super M, Tabona P, et al. Molecular basis of opsonic defects in immunodeficient children. Lancet. 1991;337: 1569-1570.
9. Summerfield JA, Sumiya M, Levin M, Turner MW. Association of mutations in mannose binding protein gene with childhood infection in consecutive hospital series. BMJ. 1997;314: 1229-1232.
10. Brandrup F, Homburg KM, Wang P, Garred P, Madsen HO. Mannan-binding lectin deficiency associated with recurrent cutaneous abscesses, prurigo and possibly atopic dermatitis. A family study. Br J Dermatol. 1999;140:180-181.
11. Summerfield JA, Ryder S, Sumiya M, et al. Mannose binding protein gene mutations associated with unusual and severe infections in adults. Lancet. 1995;345:886-889.
12. Garred P, Madsen HO, Halberg P, et al. Mannose-binding lectin polymorphisms and susceptibility to infection in systemic lupus erythematosus. Arthritis Rheum. 1999;42:2145-2152.
13. Graudal NA, Madsen HO, Tarp U, et al. The association of variant mannose-binding lectin genotypes with radiographic outcome in rheumatoid arthritis. Arthritis Rheum. 2000;43: 515-521.
14. Garred P, Pressler T, Madsen HO, et al. Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis. J Clin Invest. 1999;104: 431-437.
15. Garred P, Madsen HO, Balslev U, et al. Susceptibility to HIV infection and progression of AIDS in relation to variant alleles of mannose-binding lectin. Lancet. 1997;349:236-240.
16. Petersen SV, Thiel S, Jensenius JC. The mannan-binding lectin pathway of complement activation: biology and disease association. Mol Immunol. 2001;38:133-149.
17. Arora M, Munoz E, Tenner AJ. Identification of a site on mannan-binding lectin critical for enhancement of phagocytosis. J Biol Chem. 2001;276:43087-43094.
18. Matsushita M, Fujita T. Activation of the classical complement pathway by mannose-binding protein in association with a novel Cls-like serine protease. J Exp Med. 1992;176:1497-1502.
19. Thiel S, Vorup-Jensen T, Stover CM, et al. A second serine protease associated with mannan-binding lectin that activates complement. Nature. 1997;386:506-510.
20. Matsushita M, Endo Y, Jujita T. MASP1 (MBL-associated serine protease 1). Immunobiology. 1998;199:340-347.
21. Vorup-Jensen T, Jensenius JC, Thiel S. MASP-2, the C3 convertase generating protease of the MBLectin complement activating pathway. Immunobiology. 1998;199:348-357.
22. Walport MJ. Complement. First of two parts. N Engl J Med. 2001;344:1058-1066.
23. Walport MJ. Complement. Second of two parts. N Engl J Med. 2001;344:1140-1144.
24. Takahashi M, Endo Y, Fujita T, Matsushita M. A truncated form of mannose-binding lectin-associated serine protease (MASP)-2 expressed by alternative polyadenylation is a component of the lectin complement pathway. Int Immunol. 1999; 11:859-863.
25. Sastry K, Herman GA, Day L, et al. The human mannose-binding protein gene. Exon structure reveals its evolutionary relationship to a human pulmonary surfactant gene and localization to chromosome 10. J Exp Med. 1989;170:1175-1189.
26. Heise CT, Nicholls JR, Leamy CE, Wallis R. Impaired secretion of rat mannose-binding protein resulting from mutations in the collagen-like domain. J Immunol. 2000;165:1403-1409.
27. Naito H, Ma Y, Uemura K, Arano Y, Kawasaki T. Metabolic properties of normal and mutant mannan-binding proteins in mouse plasma. Biochem Biophys Res Commun. 1999;256: 231-234.
28. Garred P, Madsen HO, Marquart H, et al. Two edged role of mannose binding lectin in rheumatoid arthritis: a cross sectional study. J Rheumatol. 2000;27:26-34.
29. Madsen HO, Garred P, Thiel S, et al. Interplay between promoter and structural gene variants control basal serum level of mannan-binding protein. J Immunol. 1995;155:3013-3020.
30. Steffensen R, Thiel S, Varming K, Jersild C, Jensenius JC. Detection of structural mutations and promoter polymorphisms in the mannan-binding (MBL) gene by polymerase chain reaction with sequence specific primers. J Immunol Methods. 2000; 241:33-42.
31. Madsen HO, Satz ML, Hogh B, Svejgaard A, Garred P. Different molecular events result in low protein levels of mannan-binding lectin in populations from southeast Africa and South America. J Immunol. 1998;346:941-943.
32. Petersen SV, Thiel S, Jensen L, Steffensen R, Jensenius JC. An assay for the mannan-binding lectin pathway of complement activation. J Immunol Methods. 2001;257:107-116.
33. Ezekowitz RA. Ante-antibody immunity. Curr Biol. 1991;1: 60-62.
34. Sastry K, Ezekowitz RA. Collectins: pattern recognition molecules involved in first line host defense. Curr Opin Immunol. 1993;5:59-66.
35. Koch A, Melbye M, Sorensen P, Homoe P, Madsen HO, et al. Acute respiratory tract infections and mannose-binding lectin insufficiency during early childhood. JAMA. 2001;285: 1316-1321.
36. Wallis R, Dodd RB. Interaction of mannose-binding protein with associated serine proteases: effects of naturally occurring mutations. J Biol Chem. 2000;275:30962-30969.
37. Uttenthal LO. Newsletter. Antibody Shop, Denmark. 2002;1.
38. Turner M. Mannose-binding lectin (MBL) in health and disease. Immunobiology. 1998;199:327-339.
39. Valdimarsson H, Stefansson M, Vikingsdottir T, et al. Reconstitution of opsonizing activity by infusion of mannan-binding lectin (MBL) to MBL-deficient humans. Scand J Immunol. 1998;48:116-123.
40. Ma Y, Uemura K, Oka S, Kozutsumi Y, Kawasaki N, Kawasaki T. Antitumor activity of mannan-binding protein in vivo as revealed by a virus expression system: mannan-binding protein-dependent cell-mediated cytotoxicity. Proc Natl Acad Sci USA. 1999;96:371-375.