New and recurrent STAT1 mutations in seven Chinese patients with chronic mucocutaneous candidiasis

被引:12
|
作者
Wang, Xiaowen [1 ]
Zhang, Ruijun [1 ]
Wu, Weiwei [1 ]
Wang, Aiping [1 ]
Wan, Zhe [1 ]
van de Veerdonk, Frank L. [2 ]
Li, Ruoyu [1 ]
机构
[1] Peking Univ, Hosp 1, Dept Dermatol, Beijing, Peoples R China
[2] Radboud Univ Nijmegen, Med Ctr, Dept Internal Med, Nijmegen, Netherlands
基金
中国国家自然科学基金;
关键词
OF-FUNCTION MUTATIONS; SIGNAL TRANSDUCER; ACTIVATOR;
D O I
10.1111/ijd.13427
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
引用
收藏
页码:e30 / e33
页数:4
相关论文
共 50 条
  • [1] STAT1 mutations as a new genetic etiology in patients with chronic mucocutaneous candidiasis
    Hiller, J.
    Eyerich, S.
    Eyerich, K.
    Schaller, M.
    Casanova, J.
    Cypowyi, S.
    Puel, A.
    Ring, J.
    Behrendt, H.
    Hofmann, H.
    Schmidt-Weber, C.
    Traidl-Hoffmann, C.
    ALLERGY, 2012, 67 : 40 - 41
  • [2] New and Inherited STAT1 Mutations in a Chinese Family with Chronic Mucocutaneous Candidiasis: A Case Report
    Xu, Xiaoheng
    Meng, Wenxia
    Feng, Lu
    Guo, Wei
    IRANIAN JOURNAL OF PUBLIC HEALTH, 2020, 49 (06) : 1164 - 1168
  • [3] STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis
    van de Veerdonk, Frank L.
    Plantinga, Theo S.
    Hoischen, Alexander
    Smeekens, Sanne P.
    Joosten, Leo A. B.
    Gilissen, Christian
    Arts, Peer
    Rosentul, Diana C.
    Carmichael, Andrew J.
    Smits-van der Graaf, Chantal A. A.
    Kullberg, Bart Jan
    van der Meer, Jos W. M.
    Lilic, Desa
    Veltman, Joris A.
    Netea, Mihai G.
    NEW ENGLAND JOURNAL OF MEDICINE, 2011, 365 (01): : 54 - 61
  • [4] STAT1 Mutations in Chronic Mucocutaneous Candidiasis Diagnosed in an Adult
    Andou, Miya
    Tominaga, Masaki
    Nishikomori, Ryuta
    Gotoh, Kenji
    Komatsu, Nobukazu
    Matsuoka, Masanobu
    Kawayama, Tomotaka
    Hoshino, Tomoaki
    INTERNAL MEDICINE, 2024, 63 (09) : 1269 - 1271
  • [5] New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe
    Soltesz, Beata
    Toth, Beata
    Shabashova, Nadejda
    Bondarenko, Anastasia
    Okada, Satoshi
    Cypowyj, Sophie
    Abhyankar, Avinash
    Csorba, Gabriella
    Tasko, Szilvia
    Sarkadi, Adrien Katalin
    Mehes, Leonora
    Rozsival, Pavel
    Neumann, David
    Chernyshova, Liudmyla
    Tulassay, Zsolt
    Puel, Anne
    Casanova, Jean-Laurent
    Sediva, Anna
    Litzman, Jiri
    Marodi, Laszlo
    JOURNAL OF MEDICAL GENETICS, 2013, 50 (09) : 567 - 578
  • [6] Identification of gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis
    Hiller, J.
    Eyerich, S.
    Eyerich, K.
    Schaller, M.
    Casanova, J.
    Cypowyj, S.
    Puel, A.
    Ring, J.
    Hofmann, H.
    Traidl-Hoffmann, C.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2012, 132 : S91 - S91
  • [7] Gain-of-function human STAT1 mutations in patients with chronic mucocutaneous candidiasis
    Hiller, J.
    Eyerich, S.
    Eyerich, K.
    Schaller, M.
    Casanova, J.
    Cypowyj, S.
    Puel, A.
    Ring, J.
    Behrendt, H.
    Schmidt-Weber, C. B.
    Hofmann, H.
    Traidl-Hoffmann, C.
    EXPERIMENTAL DERMATOLOGY, 2012, 21 (03) : e30 - e30
  • [8] Gain-of-function mutations in STAT1: A new molecular cause for patients with chronic mucocutaneous candidiasis
    Depner, M.
    Wanders, J.
    Stauss, H.
    Jansson, A.
    Dueckers, G.
    Niehues, T.
    Baumann, U.
    Pedersen, A. Stray
    Kilic, S. S.
    Atkinson, T. P.
    Puck, J. M.
    Franco, J. L.
    Devlin, L.
    Jensen, T. D.
    Henderson, P.
    Matthijs, G.
    Ben Shoshan, M.
    McCusker, C.
    Jacob, C. M.
    Grimbacher, B.
    MYCOSES, 2012, 55 : 319 - 319
  • [9] GAIN-OF-FUNCTION STAT1 MUTATIONS ALTER STAT3 ACTIVATION IN PATIENTS WITH CHRONIC MUCOCUTANEOUS CANDIDIASIS
    Zheng, J.
    Rowan, A. D.
    Gennery, A. R.
    Abinun, M.
    Lilic, D.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2012, 32 : 203 - 203
  • [10] Chronic Mucocutaneous Candidiasis Due to STAT1 Gene Variant
    Jing, Danrui
    Liang, Guanzhao
    Li, Xiaofang
    JAMA DERMATOLOGY, 2024, 160 (05) : 565 - 566