Efficacy of tocilizumab therapy in a patient with severe pancytopenia associated with a STAT3 gain-of-function mutation

被引：0
|
作者：
Wenjie Wang
Luyao Liu
Xiaoying Hui
Ying Wang
Wenjing Ying
Qinhua Zhou
Jia Hou
Mi Yang
Bijun Sun
Jinqiao Sun
Xiaochuan Wang
机构：
[1] Children’s Hospital of Fudan University,Department of Clinical Immunology
[2] National Children’s Medical Center,undefined
来源：
BMC Immunology | / 22卷
关键词：
STAT3 transcription factor; Tocilizumab; Immune Dysregulation; Gain-of-function mutations;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [21] Tocilizumab Promotes Regulatory T-cell Alleviation in STAT3 Gain-of-function associated Multi-organ Autoimmune Syndrome
    Khoury, Tawfik
    Molho-Pessach, Vered
    Ramot, Yuval
    Ayman, Abu Rmeileh
    Elpeleg, Orly
    Berkman, Neville
    Zlotogorski, Abraham
    Ilan, Yaron
    CLINICAL THERAPEUTICS, 2017, 39 (02) : 444 - 449
  • [22] Aortic Calcification in a Patient with a Gain-of-Function STAT1 Mutation
    Anna E. Smyth
    Epp Kaleviste
    Aisling Snow
    Kai Kisand
    Colin J. McMahon
    Andrew J. Cant
    T. Ronan Leahy
    Journal of Clinical Immunology, 2018, 38 : 468 - 470
  • [23] Rosacea and demodicidosis associated with gain-of-function mutation in STAT1
    Second, J.
    Korganow, A. -S.
    Jannier, S.
    Puel, A.
    Lipsker, D.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2017, 31 (12) : E542 - E544
  • [24] A gain-of-function mutation in STAT6
    Daniel, C
    Salvekar, A
    Schindler, U
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2000, 275 (19) : 14255 - 14259
  • [25] A patient-based murine model recapitulates human STAT3 gain-of-function syndrome
    Meesilpavikkai, Kornvalee
    Zhou, Zijun
    Kaikaew, Kasiphak
    Phakham, Suphattra
    van der Spek, Peter J.
    Swagemakers, Sigrid
    Venter, Deon J.
    de Bie, Maaike
    Schrijver, Benjamin
    Schliehe, Christopher
    Kaiser, Fabian
    Dalm, Virgil A. S. H.
    van Hagen, P. Martin
    Hirankarn, Nattiya
    Ijspeert, Hanna
    Dik, Willem A.
    CLINICAL IMMUNOLOGY, 2024, 266
  • [26] A Novel STAT3 Gain-of-Function Mutation in Fatal Infancy-Onset Interstitial Lung Disease
    Deng, Mengyue
    Li, Yue
    Li, Yulu
    Mao, Xiaolan
    Ke, Han
    Liang, Weiling
    Lei, Xiaoguang
    Lau, Yu-Lung
    Mao, Huawei
    FRONTIERS IN IMMUNOLOGY, 2022, 13
  • [27] Novel Mosaic STAT3 Gain-of-Function Variant in a Healthy Mother
    Schmitt, Erica
    Risma, Samuel
    Saucier, Nermina
    Thatayatikom, Akaluck
    Cooper, Megan
    JOURNAL OF CLINICAL IMMUNOLOGY, 2022, 42 (SUPPL 1) : S107 - S107
  • [28] The STAT3 HIES mutation is a gain-of-function mutation that activates genes via AGG-element carrying promoters
    Xu, Li
    Ji, Jin-Jun
    Le, Wangping
    Xu, Yan S.
    Dou, Dandan
    Pan, Jieli
    Jiao, Yifeng
    Zhong, Tianfei
    Wu, Dehong
    Wang, Yumei
    Wen, Chengping
    Xie, Guan-Qun
    Yao, Feng
    Zhao, Heng
    Fan, Yong-Sheng
    Chin, Y. Eugene
    NUCLEIC ACIDS RESEARCH, 2015, 43 (18) : 8898 - 8912
  • [29] Bronchiectasis Reversal with Tofacitinib Therapy in a Patient with STAT 3 Gain of Function Mutation
    Perkins, R.
    Bartnikas, L. M.
    Casey, A. M.
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2020, 201
  • [30] ANTIBODY NEGATIVE HYPOTHYROIDISM ASSOCIATED WITH GAIN-OF-FUNCTION STAT1 MUTATION
    Kadakia, Sejal
    Leonard, Stephanie
    Hagood, James
    Newfield, Ron S.
    HORMONE RESEARCH IN PAEDIATRICS, 2017, 88 : 578 - 579
12345