RARE STAT1 GOF MUTATION IN DNA BINDING DOMAIN CAUSING MILD CMC

被引:0
|
作者
Hsu, Peter [1 ]
Wong, Natalie [2 ]
Avery, Danielle T. [2 ]
Torpy, James [2 ]
Gray, Paul [3 ]
Fulcher, David A. [4 ]
Uzel, Gulbu [5 ]
Williams, Andrew [1 ]
Wong, Melanie [1 ]
Campbell, Dianne [1 ]
Tangye, Stuart G. [2 ]
机构
[1] Childrens Hosp Westmead, Dept Allergy & Immunol, Sydney, NSW, Australia
[2] St Vincents Hosp, Garvan Inst Med Res, Immunol Res Program, Darlinghurst, NSW 2010, Australia
[3] Sydney Childrens Hosp, Dept Immunol & Infect Dis, Sydney, NSW, Australia
[4] Westmead Hosp, Dept Immunol & Immunopathol, Inst Clin Pathol & Med Res, Sydney, NSW, Australia
[5] NIAID, Lab Clin & Infect Dis, NIH, Bethesda, MD 20892 USA
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
P15
引用
收藏
页码:5 / 5
页数:1
相关论文
共 50 条
  • [31] Proceed with Caution: STAT1 GOF Diagnosis Missed Due to Intronic SNP
    Laine M. Hosking
    Alex Quach
    Charlotte A. Slade
    Melanie A. Galea
    Stephanie Richards
    Sharon Choo
    Antonio Ferrante
    Journal of Clinical Immunology, 2020, 40 : 547 - 550
  • [32] Molecular and Phenotypic Characterization of Nine Patients with STAT1 GOF Mutations in China
    Chen, Xuemei
    Xu, Qiling
    Li, Xiaolin
    Wang, Linlin
    Yang, Lu
    Chen, Zhi
    Zeng, Ting
    Xue, Xiuhong
    Xu, Tao
    Wang, Yanping
    Jia, Yanjun
    Zhao, Qin
    Wu, Junfeng
    Liang, Fangfang
    Tang, Xuemei
    Yang, Jun
    An, Yunfei
    Zhao, Xiaodong
    JOURNAL OF CLINICAL IMMUNOLOGY, 2020, 40 (01) : 82 - 95
  • [33] Aorto-Oesophageal Fistula in a Patient with Chronic Mucocutaneous Candidiasis (CMC) and a Novel STAT1 Mutation
    Ponsford, M.
    Roberts, A.
    El-Shanawany, T.
    Doffinger, R.
    Thaventhiran, J.
    Carne, E.
    Jolles, S.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 : S247 - S247
  • [34] STAT1 GAIN-OF-FUNCTION MUTATION IN A PATIENT WITH MULTIFOCAL ENTEROCOLITIS, SLE, AND FAMILY HISTORY OF CMC
    Nawaz, S.
    Lee, G.
    Tison, K.
    Kobrynski, L.
    ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2020, 125 (05) : S91 - S91
  • [35] TACKLING THE HETEROGENEITY IN PATIENTS WITH CHRONIC MUCOCUTANEOUS CANDIDIASIS CAUSED BY MUTATIONS IN THE STAT1 DNA-BINDING DOMAIN
    Schaballie, Heidi
    Wuyts, Greet
    Moens, Leen
    Dillaerts, Doreen
    De Boeck, Kris
    Renard, Marleen
    Liston, Adrian
    Bossuyt, Xavier
    Meyts, Isabelle
    JOURNAL OF CLINICAL IMMUNOLOGY, 2013, 33 (03) : 688 - 688
  • [36] Immunogenicity and Safety of COVID-19 mRNA Vaccine in STAT1 GOF Patients
    Marketa Bloomfield
    Zuzana Parackova
    Jana Hanzlikova
    Jan Lastovicka
    Anna Sediva
    Journal of Clinical Immunology, 2022, 42 : 266 - 269
  • [37] Distinct transcriptional activation functions of STAT1α and STAT1β on DNA and chromatin templates
    Zakharova, N
    Lymar, ES
    Yang, E
    Malik, S
    Zhang, JJL
    Roeder, RG
    Darnell, JE
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2003, 278 (44) : 43067 - 43073
  • [38] A Rare Cause of Non Cirrhotic Variceal Bleeding: Stat1 Gene Mutation and ITP
    Liu, David
    Epstein, Ian
    AMERICAN JOURNAL OF GASTROENTEROLOGY, 2016, 111 : S880 - S881
  • [39] Cutaneous tuberculosis in a patient with a STAT1 mutation
    Ma, Yubo
    Zhang, Yi
    Li, Ruoyu
    Wang, Xiaowen
    Wang, Aiping
    JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, 2021, 19 (11): : 1647 - 1649
  • [40] Disseminated Histoplasmosis in an Adult with STAT1 Mutation
    Nimri, Sarah
    Davis, Benjamin
    Dowden, Amy
    Bayer, Diana K.
    CLINICAL IMMUNOLOGY, 2024, 262