PROGRESSIVE GAIT INSTABILITY AND INTRACRANIAL LESIONS OF UNKNOWN ETIOLOGY IN STAT1 GOF MUTATION

被引：0
|
作者：
Biswas, L.
Lawrence, M.
Heinan, K.
Koroulakis, D.
Berry, D.
机构：
来源：
ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY | 2020年 / 125卷 / 05期
关键词：
D O I：
暂无
中图分类号：
R392 [医学免疫学];
学科分类号：
100102 ;
摘要：
M240
引用
收藏
页码：S81 / S81
页数：1
相关论文
共 50 条
  • [11] Rare STAT1 GOF Mutation in Dna Binding Domain Causing Mild CMC
    Hsu, P.
    Wong, N.
    Avery, D. T.
    Torpy, J.
    Gray, P. E.
    Fulcher, D. A.
    Uzel, G.
    Williams, A.
    Wong, M.
    Campbell, D. E.
    Tangye, S. G.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 : S451 - S451
  • [12] NOVEL STAT1 GOF MUTATIONS IN ECE PATIENTS WITH CMCD
    Soltesz, Beata
    Toth, Beata
    Shabashova, Nadejda
    Bondarenko, Anastasia
    Okada, Satoshi
    Cypowyj, Sophie
    Abhyankar, Avinash
    Csorba, Gabriella
    Tasko, Szilvia
    Sarkadi, Adrien Katalin
    Mehes, Leonara
    Rozsival, Pavel
    Neumann, David
    Chernyshova, Liudmyla
    Tulassay, Zsolt
    Puel, Anne
    Casanova, Jean-Laurent
    Sediva, Anna
    Litzman, Jiri
    Marodi, Laszlo
    JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 (06) : 703 - 703
  • [13] Clinical Description of Rosacea in a Family with STAT 1 GOF Mutation
    Blancas Galicia, Lizbeth
    Suarez-Gutierrez, Marcos
    Puel, Anne
    Migaud, Melanie
    Espinosa-Padilla, Sara E.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2019, 39 : S142 - S142
  • [14] Proceed with Caution: STAT1 GOF Diagnosis Missed Due to Intronic SNP
    Hosking, Laine M.
    Quach, Alex
    Slade, Charlotte A.
    Galea, Melanie A.
    Richards, Stephanie
    Choo, Sharon
    Ferrante, Antonio
    JOURNAL OF CLINICAL IMMUNOLOGY, 2020, 40 (03) : 547 - 550
  • [15] Molecular and Phenotypic Characterization of Nine Patients with STAT1 GOF Mutations in China
    Xuemei Chen
    Qiling Xu
    Xiaolin Li
    Linlin Wang
    Lu Yang
    Zhi Chen
    Ting Zeng
    Xiuhong Xue
    Tao Xu
    Yanping Wang
    Yanjun Jia
    Qin Zhao
    Junfeng Wu
    Fangfang Liang
    Xuemei Tang
    Jun Yang
    Yunfei An
    Xiaodong Zhao
    Journal of Clinical Immunology, 2020, 40 : 82 - 95
  • [16] Cutaneous manifestations of the STAT1 mutation
    Sanchez Orta, A.
    Albizuri Prado, F.
    Mayor Ibarguren, A. P.
    Herranz Pinto, P.
    Nuno Gonzalez, A.
    EXPERIMENTAL DERMATOLOGY, 2019, 28 : 30 - 30
  • [17] 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
  • [18] 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
  • [19] 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
  • [20] 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
12345