Loss-of-function mutations in the gene encoding filaggrin underlie a Japanese family with food-dependent exercise-induced anaphylaxis

O. Mizuno, T. Nomura (Lead / Corresponding author), Y. Ohguchi, S. Suzuki, Y. Nomura, Y. Hamade, D. Hoshina, A. Sandilands, M. Akiyama, W.H.I. McLean, R. Abe, H. Shimizu

    Research output: Contribution to journalArticle

    4 Citations (Scopus)

    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. Objectives: 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. Conclusion: These results indicate that FLG mutations might be involved in the pathogenesis of WDEIA in the present case.
    Original languageEnglish
    Pages (from-to)805-808
    Number of pages4
    JournalJournal of the European Academy of Dermatology and Venereology
    Volume29
    Issue number4
    Early online date14 Mar 2014
    DOIs
    Publication statusPublished - Apr 2015

    Fingerprint

    Anaphylaxis
    Exercise
    Food
    Mutation
    Genes
    Triticum
    Ichthyosis Vulgaris
    Food Hypersensitivity
    filaggrin
    Allergens
    Eating
    Population

    Cite this

    Mizuno, O. ; Nomura, T. ; Ohguchi, Y. ; Suzuki, S. ; Nomura, Y. ; Hamade, Y. ; Hoshina, D. ; Sandilands, A. ; Akiyama, M. ; McLean, W.H.I. ; Abe, R. ; Shimizu, H. / Loss-of-function mutations in the gene encoding filaggrin underlie a Japanese family with food-dependent exercise-induced anaphylaxis. In: Journal of the European Academy of Dermatology and Venereology. 2015 ; Vol. 29, No. 4. pp. 805-808.
    @article{f3d5795d2f804ad4b1f2472187e8c3de,
    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. Objectives: 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. Conclusion: These results indicate that FLG mutations might be involved in the pathogenesis of WDEIA in the present case.",
    author = "O. Mizuno and T. Nomura and Y. Ohguchi and S. Suzuki and Y. Nomura and Y. Hamade and D. Hoshina and A. Sandilands and M. Akiyama and W.H.I. McLean and R. Abe and H. Shimizu",
    year = "2015",
    month = "4",
    doi = "10.1111/jdv.12441",
    language = "English",
    volume = "29",
    pages = "805--808",
    journal = "Journal of the European Academy of Dermatology and Venereology",
    issn = "0926-9959",
    publisher = "Wiley",
    number = "4",

    }

    Loss-of-function mutations in the gene encoding filaggrin underlie a Japanese family with food-dependent exercise-induced anaphylaxis. / Mizuno, O.; Nomura, T. (Lead / Corresponding author); Ohguchi, Y.; Suzuki, S.; Nomura, Y.; Hamade, Y.; Hoshina, D.; Sandilands, A.; Akiyama, M.; McLean, W.H.I.; Abe, R.; Shimizu, H.

    In: Journal of the European Academy of Dermatology and Venereology, Vol. 29, No. 4, 04.2015, p. 805-808.

    Research output: Contribution to journalArticle

    TY - JOUR

    T1 - Loss-of-function mutations in the gene encoding filaggrin underlie a Japanese family with food-dependent exercise-induced anaphylaxis

    AU - Mizuno, O.

    AU - Nomura, T.

    AU - Ohguchi, Y.

    AU - Suzuki, S.

    AU - Nomura, Y.

    AU - Hamade, Y.

    AU - Hoshina, D.

    AU - Sandilands, A.

    AU - Akiyama, M.

    AU - McLean, W.H.I.

    AU - Abe, R.

    AU - Shimizu, H.

    PY - 2015/4

    Y1 - 2015/4

    N2 - 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. Objectives: 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. Conclusion: These results indicate that FLG mutations might be involved in the pathogenesis of WDEIA in the present case.

    AB - 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. Objectives: 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. Conclusion: These results indicate that FLG mutations might be involved in the pathogenesis of WDEIA in the present case.

    UR - http://www.scopus.com/results/results.url?sort=plf-f&src=s&st1=Loss-of-function+mutations+in+the+gene+encoding+filaggrin+underlie+a+Japanese+family+with+food-dependent+exercise-induced+anaphylaxis&sid=D06E3028AE519AE8DE8FEC1A997E2D78.iqs8TDG0Wy6BURhzD3nFA%3a1080&sot=b&sdt=b&sl=148&s=TITLE-ABS-KEY%28Loss-of-function+mutations+in+the+gene+encoding+filaggrin+underlie+a+Japanese+family+with+food-dependent+exercise-induced+anaphylaxis%29&origin=searchbasic&editSaveSearch=&txGid=D06E3028AE519AE8DE8FEC1A997E2D78.iqs8TDG0Wy6BURhzD3nFA%3a108

    U2 - 10.1111/jdv.12441

    DO - 10.1111/jdv.12441

    M3 - Article

    VL - 29

    SP - 805

    EP - 808

    JO - Journal of the European Academy of Dermatology and Venereology

    JF - Journal of the European Academy of Dermatology and Venereology

    SN - 0926-9959

    IS - 4

    ER -