NOD2 mosaicism in Blau syndrome

被引:0
|
作者
Mensa-Vilaro A. [1 ]
De Inocencio J. [2 ]
Cham W.T. [3 ]
Gonzalez-Roca E. [1 ]
Tejada-Palacios P. [2 ]
Tang S.P. [3 ]
Ruiz-Ortiz E. [1 ]
Enriquez-Merayo E. [2 ]
Lim S.C. [3 ]
Magri G. [4 ]
Plaza S. [1 ]
Anton M.C. [1 ]
Cerutti A. [4 ]
Ariffin R. [5 ]
Yagüe J. [1 ]
Arostegui J.I. [1 ]
机构
[1] Hospital Clínic, Immunology, Barcelona
[2] Hospital 12 de Octubre, Pediatric Rheumatology, Madrid
[3] Selayang Hospital, Kuala Lumpur
[4] Institut Municipal d'Investigació Mèdica, Barcelona
[5] Kuala Lumpur Hospital, Kuala Lumpur
关键词
Uveitis; Sanger Sequencing; Autoinflammatory Disease; NOD2 Mutation; Erythematous Rash;
D O I
10.1186/1546-0096-13-S1-P59
中图分类号
学科分类号
摘要
[No abstract available]
引用
收藏
相关论文
共 50 条
  • [21] Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation
    Kurokawa, T
    Kikuchi, T
    Ohta, K
    Imai, H
    Yoshimura, N
    OPHTHALMOLOGY, 2003, 110 (10) : 2040 - 2044
  • [22] NOD2 Mutation-Associated Case with Blau Syndrome Triggered by BCG Vaccination
    Arakawa, Akiko
    Kambe, Naotomo
    Nishikomori, Ryuta
    Tanabe, Akiyo
    Ueda, Masamichi
    Nishigori, Chikako
    Miyachi, Yoshiki
    Kanazawa, Nobuo
    CHILDREN-BASEL, 2021, 8 (02):
  • [23] Disruption of Nod2 within T cells causes uveitis: Implications for Blau Syndrome
    Rosenzweig, Holly L.
    Lee, Ellen J.
    Vance, Emily
    Lashley, Sydney
    Binstadt, Bryce
    Caspi, Rachel R.
    Napier, Ruth
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2021, 62 (08)
  • [24] Mutated NOD2 Controls IL-2 Production in Blau Syndrome Patients and Mice
    Huey, Leah M.
    Vance, Emily
    Rosenzweig, Holly L.
    Binstadt, Bryce
    Napier, Ruth J.
    ARTHRITIS & RHEUMATOLOGY, 2023, 75 : 1609 - 1610
  • [25] NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome
    Xiang, Haotian
    Zhang, Ting
    Chen, Mengping
    Zhou, Xiaomin
    Li, Zhen
    Yan, Naihong
    Li, Shiguang
    Han, Yu
    Gong, Qiyong
    Liu, Xuyang
    MOLECULAR VISION, 2012, 18 (68-69): : 617 - 623
  • [26] Incomplete penetrance of NOD2 C483W mutation underlining Blau syndrome
    Shao-Yu Chang
    Naotomo Kambe
    Wen-Lang Fan
    Jing-Long Huang
    Wen-I Lee
    Chao-Yi Wu
    Pediatric Rheumatology, 20
  • [27] The NOD2 Defect in Blau Syndrome Does Not Result in Excess Interleukin-1 Activity
    Martin, Tammy M.
    Zhang, Zili
    Kurz, Paul
    Rose, Carlos D.
    Chen, Hong
    Lu, Huiying
    Planck, Stephen R.
    Davey, Michael P.
    Rosenbaum, James T.
    ARTHRITIS AND RHEUMATISM, 2009, 60 (02): : 611 - 618
  • [28] Incomplete penetrance of NOD2 C483W mutation underlining Blau syndrome
    Chang, Shao-Yu
    Kambe, Naotomo
    Fan, Wen-Lang
    Huang, Jing-Long
    Lee, Wen-, I
    Wu, Chao-Yi
    PEDIATRIC RHEUMATOLOGY, 2022, 20 (01)
  • [29] Role of the NOD2 Genotype in the Clinical Phenotype of Blau Syndrome and Early-Onset Sarcoidosis
    Okafuji, Ikuo
    Nishikomori, Ryuta
    Kanazawa, Nobuo
    Kambe, Naotomo
    Fujisawa, Akihiro
    Yamazaki, Shin
    Saito, Megumu
    Yoshioka, Takakazu
    Kawai, Tomoki
    Sakai, Hidemasa
    Tanizaki, Hideaki
    Heike, Toshio
    Miyachi, Yoshiki
    Nakahata, Tatsutoshi
    ARTHRITIS AND RHEUMATISM, 2009, 60 (01): : 242 - 250
  • [30] Blau syndrome with NOD2 mutation in a 54-year-old man: A case report
    Wang, Zhiyan
    Yang, Mingdong
    Zhang, Qunqun
    Zhang, Suhua
    Sui, Haifang
    Liu, Jiane
    Yang, Qingrui
    INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES, 2023, 26 (10) : 2080 - 2084