Chronic mucocutaneous candidiasis and immune dysregulation due to STAT1 Gain of Function

被引：0
|
作者：
Hauk, Stacey [1 ]
Hannett, Katrina [1 ]
Fowler, Shannon [1 ]
McGoey, Barbara [1 ]
Ravell, Juan [2 ]
机构：
[1] Hackensack Univ, Med Ctr, Hackensack, NJ USA
[2] Hackensack Univ, Med Ctr, Div Chief Allergy & Immunol, Hackensack, NJ USA
来源：
CLINICAL IMMUNOLOGY | 2023年 / 250卷
关键词：
STAT1; Chronic mucocutaneous candidiasis; Gain of Function; Mutations;
D O I：
10.1016/j.clim.2023.109585
中图分类号：
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号：
100102 ;
摘要：
240
引用
收藏
页码：141 / 141
页数：1
相关论文
共 50 条
  • [21] Chinese Pedigree of Chronic Mucocutaneous Candidiasis Due to STAT1 Gain-of-Function Mutation: A Case Study and Literature Review
    Wang, Xu
    Zhao, Weiwei
    Chen, Feng
    Zhou, Peiru
    Yan, Zhimin
    MYCOPATHOLOGIA, 2023, 188 (1-2) : 87 - 97
  • [22] Chinese Pedigree of Chronic Mucocutaneous Candidiasis Due to STAT1 Gain-of-Function Mutation: A Case Study and Literature Review
    Xu Wang
    Weiwei Zhao
    Feng Chen
    Peiru Zhou
    Zhimin Yan
    Mycopathologia, 2023, 188 : 87 - 97
  • [23] ATYPICAL PRESENTATION OF STAT1 GAIN-OF-FUNCTION CHARACTERIZED BY AUTOIMMUNITY WITHOUT CHRONIC MUCOCUTANEOUS CANDIDIASIS
    Chin, A.
    Butte, M.
    ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2023, 131 (05) : S159 - S159
  • [24] Utility of ruxolitinib in a patient with chronic mucocutaneous candidiasis caused by STAT1 gain-of-function mutation
    Olivier, N.
    Boralevi, F.
    Fricain, J. -C.
    Doutre, M. -S.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2022, 36 (11) : E899 - E902
  • [25] Recurrent inflammatory aortic aneurysms in chronic mucocutaneous candidiasis with a gain-of-function STAT1 mutation
    Tanimura, Muneyoshi
    Dohi, Kaoru
    Hirayama, Masahiro
    Sato, Yuichi
    Sugiura, Emiyo
    Nakajima, Hiroshi
    Kanemitsu, Shinji
    Toyoda, Hidemi
    Yamada, Norikazu
    Masuya, Masahiro
    Imanaka-Yoshida, Kyoko
    Shimpo, Hideto
    Azuma, Eiichi
    Ito, Masaaki
    INTERNATIONAL JOURNAL OF CARDIOLOGY, 2015, 196 : 88 - 90
  • [26] A GAIN-OF-FUNCTION MUTATION OF STAT1: A NOVEL GENETIC FACTOR CONTRIBUTING TO CHRONIC MUCOCUTANEOUS CANDIDIASIS
    Eslami, Narges
    Tavakol, Marzieh
    Mesdaghi, Mehrnaz
    Gharegozlou, Mohammad
    Casanova, Jean-Laurent
    Puel, Anne
    Okada, Satoshi
    Arshi, Saba
    Bemanian, Mohammad Hassan
    Fallahpour, Morteza
    Molatefi, Rasool
    Seif, Farhad
    Zoghi, Samaneh
    Rezaei, Nima
    Nabavi, Mohammad
    ACTA MICROBIOLOGICA ET IMMUNOLOGICA HUNGARICA, 2017, 64 (02) : 191 - 201
  • [27] 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
  • [28] 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
  • [29] STAT1 Gain-of-Function in Patients with Chronic Mucocutaneous Candidiasis Can be Detected By the Excessive Phosphorylation of STAT1 in Peripheral Blood Monocytes
    Mizoguchi, Yoko
    Tsumura, Miyuki
    Okada, Satoshi
    Hirata, Osamu
    Minegishi, Shizuko
    Hyakuna, Nobuyuki
    Casanova, Jean-Laurent
    Morio, Tomohiro
    Kobayashi, Masao
    BLOOD, 2014, 124 (21)
  • [30] Sporadic Case Of Chronic Mucocutaneous Candidiasis (CMC) Due To a Gain-Of-Function Mutation In STAT1 In a 13 Year Old Female
    Ellington, Aimee E. Baer
    Shih, Jennifer A.
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2014, 133 (02) : AB250 - AB250
12345