Association of mutations in mannose binding protein gene with childhood infection in consecutive hospital series

British Medical Journal

Volumn 314, Issue 7089, 1997, Pages 1229-1232

  Summerfield, John A ^a   Sumiya, Michiko ^a   Levin, Michael ^a   Turner, Malcolm W ^b  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MANNOSE BINDING PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; INFANT; INFECTION; MAJOR CLINICAL STUDY; MALE; NEWBORN; PRIORITY JOURNAL; SCREENING; SEPTICEMIA; UNITED KINGDOM;

EID: 0030986151     PISSN: 09598146     EISSN: None     Source Type: Journal    
DOI: 10.1136/bmj.314.7089.1229     Document Type: Article

References (11)

1. Sumiya M, Summerfield JA. Mannose-binding protein, genetic variants and the risk of infection. Q J Med 1996;89:723-6.
2. Super M, Thiel S, Lu J, Levinsky RJ, Turner MW. Association of low levels of mannan-binding proteins with a common defect of opsonisation. Lancet 1989;ii:1236-9.
3. Sumiya M, Super M, Tabona T, Levinsky RJ, Arai T, Turner MW, et al. Molecular basis of opsonic defect in immunodeficient children. Lancet 1991; 337: 1569-70.
4. Lipscombe RJ, Sumiya M, Hill AVS, Lau YL, Levinsky RJ, Summerfield JA, et al. High frequencies in African and non-African populations of independent mutations in the mannose binding protein gene. Hum Mol Genetics 1992;1:709-15.
5. Lipscombe RJ, Sumiya M, Summerfield JA, Turner MW. Distinct physicochemical characteristics of human mannose binding protein (MBP) expressed by individuals of differing genotype. Immunology 1995;85:660-7.
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7. Summerfield JA, Ryder S, Sumiya M, Thursz M, Gorchein A, Monteil MA, et al. Mannose binding protein gene mutations associated with unusual and severe infections in adults. Lancet 1995;345:886-9.
8. Garred P, Madsen HO, Hofmann B, Svejgaard A. Increased frequency of homozygosity of abnormal mannan binding protein alleles in patients with suspected immunodeficiency. Lancet 1995;346:941-3.
9. Lipscombe RJ, Beatty DW, Ganczakowski M, Goddard EA, Jenkins T, Lau YL, et al. Mutations in the human mannose-binding protein gene: frequencies in several population groups. Eur J Hum Genet 1996;4:13-9.
10. Richardson VT, Larcher VT, Price JF. A common congenital immunodeficiency predisposing to infection and atopy in infancy. Arch Dis Child 1983;58:799-802.
11. Turner MW, Super M, Singh S, Levinsky RJ. Molecular basis of opsonic defect in immunodeficient children. Clin Exp Allergy. 1991;21(suppl 1):182-8.