Mannose binding protein gene mutations associated with unusual and severe infections in adults

J. A. Summerfield, S. Ryder, M. Sumiya, M. Thursz, A. Gorchein, Michele Anne Monteil, M. W. Turner

Research output: Contribution to journalArticle

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Abstract

A defect in opsonisation can cause a common immunodeficiency. A mutation in mannose binding protein (MBP) caused by point mutations in the MBP gene will lead to such a defect. This type of syndrome can cause recurrent infections in infants between 6 and 18 months of age but is not generally believed to predispose to adult infections. We looked at 4 patients with severe and unusual infections in whom MBP gene mutations were the only identified cause of immunodeficiency and one patient with combined MBP and IgA deficiency. We analysed the MBPgenotypes of all the patients in whom we suspected an immunodeficiency because of their clinical history. Infections seen were recurrent skin abscesses, chronic cryptosporidial diarrhoea, meningococcal meningitis with recurrent herpes simplex, and fatal klebsiella lobar pneumonia. Both sexes were affected and ages ranged from 15 to 56 years. Two patients were homozygous for codon 54 mutations, one patient had codon 52 and codon 54 mutations and was phenotypically homozygous, and two patients were heterozygous for codon 54 mutations. Individuals homozygous for MBP mutations are unusual in the general population (approximate frequency 0·3%). The occurrence of three homozygotes for MBP mutations among these five infected patients suggests that MBP deficiency may confer a life-long risk of infection.

Original languageEnglish (US)
Pages (from-to)886-889
Number of pages4
JournalThe Lancet
Volume345
Issue number8954
DOIs
StatePublished - Apr 8 1995
Externally publishedYes

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Mannose-Binding Lectin
Mutation
Codon
Infection
Genes
Meningococcal Meningitis
IgA Deficiency
Herpes Simplex
Homozygote
Klebsiella pneumoniae
Point Mutation
Abscess
Diarrhea
Pneumonia
Skin

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Summerfield, J. A., Ryder, S., Sumiya, M., Thursz, M., Gorchein, A., Monteil, M. A., & Turner, M. W. (1995). Mannose binding protein gene mutations associated with unusual and severe infections in adults. The Lancet, 345(8954), 886-889. https://doi.org/10.1016/S0140-6736(95)90009-8

Mannose binding protein gene mutations associated with unusual and severe infections in adults. / Summerfield, J. A.; Ryder, S.; Sumiya, M.; Thursz, M.; Gorchein, A.; Monteil, Michele Anne; Turner, M. W.

In: The Lancet, Vol. 345, No. 8954, 08.04.1995, p. 886-889.

Research output: Contribution to journalArticle

Summerfield, JA, Ryder, S, Sumiya, M, Thursz, M, Gorchein, A, Monteil, MA & Turner, MW 1995, 'Mannose binding protein gene mutations associated with unusual and severe infections in adults', The Lancet, vol. 345, no. 8954, pp. 886-889. https://doi.org/10.1016/S0140-6736(95)90009-8
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. The Lancet. 1995 Apr 8;345(8954):886-889. https://doi.org/10.1016/S0140-6736(95)90009-8
Summerfield, J. A. ; Ryder, S. ; Sumiya, M. ; Thursz, M. ; Gorchein, A. ; Monteil, Michele Anne ; Turner, M. W. / Mannose binding protein gene mutations associated with unusual and severe infections in adults. In: The Lancet. 1995 ; Vol. 345, No. 8954. pp. 886-889.
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