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
来源：
INTERNAL MEDICINE JOURNAL | 2014年 / 44卷
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
  • [1] 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
  • [2] STAT1 GOF MUTATION IN THE SH2 DOMAIN
    Sampaio, Elizabeth P.
    Marciano, Betty
    Hsu, Amy P.
    Adamo, Nick
    Uzel, Gulbu
    Freeman, Alexandra F.
    Zerbe, Christa S.
    Holland, Steven M.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2016, 36 (03) : 332 - 332
  • [3] 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
  • [4] DIFFERENT SEVERITY OF PHENOTYPES IN PATIENTS WITH GOF STAT1 MUTATION
    Volokha, A.
    Chernyshova, L.
    Bondarenko, A.
    Marodi, L.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 (06) : 703 - 704
  • [5] NOVEL STAT1 GOF MUTATION AFFECTING PROTEIN SUMOYLATION
    Sampaio, Elizabeth P.
    Ding, Li
    Rose, Stacey
    Cruz, Phillip
    Hsu, Amy P.
    Rosen, Lindsey B.
    Tavella, Tatyana
    Ferrer, Elise
    Zerbe, Christa S.
    Lionakis, Michail
    Holland, Steve M.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2016, 36 (03) : 300 - 300
  • [6] EMAPALUMAB AS A BRIDGE TO TRANSPLANT IN A PATIENT WITH STAT1 GOF MUTATION
    Bidgoli, Alan
    Kunvarjee, Binni
    Vidal, Esther
    Hosszu, Kinga
    Boelens, Jaap Jan
    Oved, Joseph
    BONE MARROW TRANSPLANTATION, 2023, 58 (SUPP1) : 393 - 393
  • [7] 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
  • [8] Innate immune side of STAT1 GOF
    Sediva, Anna
    Parackova, Zuzana
    Zentsova, Irena
    Vrabcova, Petra
    Bloomfield, Marketa
    CLINICAL IMMUNOLOGY, 2023, 250 : 9 - 9
  • [9] Double Trouble? CMC with a Mutation in both AIRE and STAT1
    Al Dhanhani, Huda
    Al Shehri, Tariq
    Lilic, Desa
    Buddles, Mark
    Kisand, Kai
    Maccari, Maria E.
    Leahy, Timothy Ronan
    JOURNAL OF CLINICAL IMMUNOLOGY, 2018, 38 (06) : 635 - 637
  • [10] Double Trouble? CMC with a Mutation in both AIRE and STAT1
    Huda Al Dhanhani
    Tariq Al Shehri
    Desa Lilic
    Mark Buddles
    Kai Kisand
    Maria E. Maccari
    Timothy Ronan Leahy
    Journal of Clinical Immunology, 2018, 38 : 635 - 637
12345