Molecular and Phenotypic Characterization of Nine Patients with STAT1 GOF Mutations in China

被引：0
|
作者：
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
机构：
[1] China International Science and Technology Cooperation base of Child development and Critical Disorders; Children’s Hospital of Chongqing Medical University,Department of Pediatric Research Institute; Ministry of Education Key Laboratory of Child Developme
[2] Children’s Hospital of Chongqing Medical University,Chongqing Key Laboratory of Child Infection and Immunity
[3] Zhongshan Boai Hospital Affiliated Southern Medical University,Department of Pediatric Rheumatology and Immunology
[4] Shenzhen Children’s Hospital,Department of Rheumatology and Immunology
[5] Children’s Hospital of Chongqing Medical University,Department of Rheumatology and Immunology
来源：
Journal of Clinical Immunology | 2020年 / 40卷
关键词：
STAT1; gain-of-function; innate immunity; adaptive immunity;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：82 / 95
页数：13
相关论文
共 50 条
  • [11] 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
  • [12] Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations-10 Children and Review of the Literature
    Deya-Martinez, Angela
    Riviere, Jaques G.
    Roxo-Junior, Persio
    Ramakers, Jan
    Bloomfield, Marketa
    Guisado Hernandez, Paloma
    Blanco Lobo, Pilar
    Abu Jamra, Soraya Regina
    Esteve-Sole, Ana
    Kanderova, Veronika
    Garcia-Garcia, Ana
    Lopez-Corbeto, Mireia
    Pomar, Natalia Martinez
    Martin-Nalda, Andrea
    Alsina, Laia
    Neth, Olaf
    Olbrich, Peter
    JOURNAL OF CLINICAL IMMUNOLOGY, 2022, 42 (05) : 1071 - 1082
  • [13] Immunogenicity and Safety of COVID-19 mRNA Vaccine in STAT1 GOF Patients
    Bloomfield, Marketa
    Parackova, Zuzana
    Hanzlikova, Jana
    Lastovicka, Jan
    Sediva, Anna
    JOURNAL OF CLINICAL IMMUNOLOGY, 2022, 42 (02) : 266 - 269
  • [14] Recurrent Spontaneous Intestinal Perforation due to STAT1 GOF Mutation
    Lopez Luis, Bruno Ali
    Calva-Mercado, Juan Jose
    AMERICAN JOURNAL OF GASTROENTEROLOGY, 2018, 113 (07): : 1057 - 1058
  • [15] 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
  • [16] 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
  • [17] CTFH CELLS AS DISCRIMINATOR BETWEEN PATIENTS WITH STAT1 AND STAT3 MUTATIONS
    Moens, Leen
    Schaballie, Heidi
    Frans, Glynis
    Bosch, Barbara
    Schrijvers, Rik
    Corveleyn, Anniek
    Bossuyt, Xavier
    Meyts, Isabelle
    JOURNAL OF CLINICAL IMMUNOLOGY, 2016, 36 (03) : 259 - 259
  • [18] PROGRESSIVE GAIT INSTABILITY AND INTRACRANIAL LESIONS OF UNKNOWN ETIOLOGY IN STAT1 GOF MUTATION
    Biswas, L.
    Lawrence, M.
    Heinan, K.
    Koroulakis, D.
    Berry, D.
    ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2020, 125 (05) : S81 - S81
  • [19] Progressive bronchiectasis and CMC in a patient with STAT1 GOF - a rare case of primary immunodeficiency
    Dmenska, Hanna
    Pac, Malgorzata
    Skomska-Pawliszak, Malgorzata
    Pietrucha, Barbara
    Wolska-Kusnierz, Beata
    Piatosa, Barbara
    Komarnicka, Justyna
    Heropolitanska-Pliszka, Edyta
    ADVANCES IN RESPIRATORY MEDICINE, 2020, 88 (03) : 271 - 277
  • [20] RARE STAT1 GOF MUTATION IN DNA BINDING DOMAIN CAUSING MILD CMC
    Hsu, Peter
    Wong, Natalie
    Avery, Danielle T.
    Torpy, James
    Gray, Paul
    Fulcher, David A.
    Uzel, Gulbu
    Williams, Andrew
    Wong, Melanie
    Campbell, Dianne
    Tangye, Stuart G.
    INTERNAL MEDICINE JOURNAL, 2014, 44 : 5 - 5
12345