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  1. C100 医学部/医学系研究科
  2. C100a 雑誌掲載論文
  3. 学術雑誌

Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis

http://hdl.handle.net/2237/26254
016c5ec5-31ec-455e-a9d1-9f14cedaa9e3
名前 / ファイル ライセンス アクション
Compound_hetero_FLG_text_Akiyama_revision.pdf Compound_hetero_FLG_text_Akiyama_revision.pdf ファイル公開:2018/01/01 (3.1 MB)
Item type 学術雑誌論文 / Journal Article(1)
公開日 2017-05-09
タイトル
タイトル Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis
著者 Sekiya, A.

× Sekiya, A.

WEKO 71366

Sekiya, A.

Search repository
Kono, M.

× Kono, M.

WEKO 71367

Kono, M.

Search repository
Tsujiuchi, H.

× Tsujiuchi, H.

WEKO 71368

Tsujiuchi, H.

Search repository
Kobayashi, T.

× Kobayashi, T.

WEKO 71369

Kobayashi, T.

Search repository
Nomura, T.

× Nomura, T.

WEKO 71370

Nomura, T.

Search repository
Kitakawa, M.

× Kitakawa, M.

WEKO 71371

Kitakawa, M.

Search repository
Suzuki, N.

× Suzuki, N.

WEKO 71372

Suzuki, N.

Search repository
Yamanaka, K.

× Yamanaka, K.

WEKO 71373

Yamanaka, K.

Search repository
Sueki, H.

× Sueki, H.

WEKO 71374

Sueki, H.

Search repository
McLean, W. H. I.

× McLean, W. H. I.

WEKO 71375

McLean, W. H. I.

Search repository
Shimizu, H.

× Shimizu, H.

WEKO 71376

Shimizu, H.

Search repository
Akiyama, M.

× Akiyama, M.

WEKO 71377

Akiyama, M.

Search repository
権利
権利情報 "This is the peer reviewed version of the following article: [Sekiya, A., Kono, M., Tsujiuchi, H., Kobayashi, T., Nomura, T., Kitakawa, M., Suzuki, N., Yamanaka, K., Sueki, H., McLean, W.H.I., Shimizu, H. and Akiyama, M. (2017), Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis. J Eur Acad Dermatol Venereol, 31: 158–162. doi:10.1111/jdv.13871], which has been published in final form at [http://doi.org/10.1111/jdv.13871]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving."
抄録
内容記述 Background: Mutations in FLG, which encodes profilaggrin, cause ichthyosis vulgaris (IV) and are an important predisposing factor for atopic dermatitis (AD). IV shows autosomal hemidominant (semidominant) inheritance, and patients with bi-allelic FLG mutations tend to have severe IV phenotypes. However, the effect of bi-allelic FLG mutations on AD incidence and severity remains a subject of controversy. Objective: In this study, we studied individuals with bi-allelic null FLG mutations to elucidate the effect of bi-allelic FLG mutations on AD incidence and severity. Methods: Six individuals with bi-allelic FLG null mutations from three families of IV/AD were investigated. We report the detailed clinical features of the individuals. The phenotype was confirmed by the clinical examinations and the severity of IV and AD was scored using ichthyosis score and Eczema Area and Severity Index (EASI). Result: It was found that five of the six patients had severe IV, and the remaining patient showed moderate IV. Two of the six had moderate AD and three of the six had mild AD. The remaining patient had no AD. Conclusion: Our results suggest that individuals with bi-allelic FLG mutations do not always have severe AD and confirm that not all individuals with bi-allelic FLG mutations have AD.
内容記述タイプ Abstract
出版者
出版者 Wiley
言語
言語 eng
資源タイプ
資源タイプresource http://purl.org/coar/resource_type/c_6501
タイプ journal article
ISSN
収録物識別子タイプ ISSN
収録物識別子 0926-9959
書誌情報 Journal of the European Academy of Dermatology and Venereology

巻 31, p. 158-162, 発行日 2017-01
著者版フラグ
値 author
URI
識別子 http://doi.org/10.1111/jdv.13871
識別子タイプ DOI
URI
識別子 http://hdl.handle.net/2237/26254
識別子タイプ HDL
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