title: Loss-of-function mutations in the gene encoding filaggrin underlie a Japanese family with food-dependent exercise-induced anaphylaxis.
abstract: BACKGROUND
  Food-dependent exercise-induced anaphylaxis (FDEIA) is a serious food allergy in which anaphylaxis develops when exercise is performed within several hours after food intake. The precise mechanism underlying allergic sensitization in FDEIA has been an important issue but remains poorly understood.
  
  
  OBJECTIVE
  We aimed to elucidate the pathomechanism including the route of allergen sensitization involved in FDEIA.
  
  
  METHODS
  A Japanese family with wheat-dependent exercise-induced anaphylaxis (WDEIA), a specific form of FDEIA, were clinically examined. Mutation analysis of the gene encoding filaggrin (FLG) was also performed.
  
  
  RESULTS
  Two of the family members were confirmed as WDEIA on the basis of their medical history and positive provocation test results. Notably, the two affected individuals in the family had concomitant ichthyosis vulgaris. Mutation analysis of FLG revealed that they carry one or more loss-of-function mutations that have not been described in the Japanese population.
  
  
  CONCLUSIONS
  These results indicate that FLG mutations might be involved in the pathogenesis of WDEIA in the present case.
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
authors.forename: O
authors.initials: O
authors.lastname: Mizuno
authors.forename: T
authors.initials: T
authors.lastname: Nomura
authors.forename: Y
authors.initials: Y
authors.lastname: Ohguchi
authors.forename: S
authors.initials: S
authors.lastname: Suzuki
authors.forename: Y
authors.initials: Y
authors.lastname: Nomura
authors.forename: Y
authors.initials: Y
authors.lastname: Hamade
authors.forename: D
authors.initials: D
authors.lastname: Hoshina
authors.forename: A
authors.initials: A
authors.lastname: Sandilands
authors.forename: M
authors.initials: M
authors.lastname: Akiyama
authors.forename: W H I
authors.initials: WH
authors.lastname: McLean
authors.forename: R
authors.initials: R
authors.lastname: Abe
authors.forename: H
authors.initials: H
authors.lastname: Shimizu
mesh_terms: D000328:Adult; D000707:Anaphylaxis / Q000209:etiology / Q000235:genetics*; D004252:DNA Mutational Analysis; D015444:Exercise; D005260:Female; D000091344:Filaggrin Proteins; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D007564:Japan; D009154:Mutation; D010375:Pedigree; D021182:Wheat Hypersensitivity / Q000235:genetics*
chemical_list: C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins