title: Mannose binding protein gene mutations associated with unusual and severe infections in adults.
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 MBP genotypes 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.
authors.affiliation: Department of Medicine, St Mary's Hospital Medical School, Imperial College of Science, Technology and Medicine, London.
authors.forename: J A
authors.initials: JA
authors.lastname: Summerfield
authors.forename: S
authors.initials: S
authors.lastname: Ryder
authors.forename: M
authors.initials: M
authors.lastname: Sumiya
authors.forename: M
authors.initials: M
authors.lastname: Thursz
authors.forename: A
authors.initials: A
authors.lastname: Gorchein
authors.forename: M A
authors.initials: MA
authors.lastname: Monteil
authors.forename: M W
authors.initials: MW
authors.lastname: Turner
mesh_terms: D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D003062:Codon; D005260:Female; D006801:Humans; D007239:Infections / Q000235:genetics* / Q000276:immunology / Q000503:physiopathology; D008297:Male; D037241:Mannose-Binding Lectins; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree
chemical_list: D002352:Carrier Proteins; D003062:Codon; D037241:Mannose-Binding Lectins