NOVEL STAT1 GOF MUTATION AFFECTING PROTEIN SUMOYLATION

被引：0
|
作者：
Sampaio, Elizabeth P. [1 ]
Ding, Li [1 ]
Rose, Stacey [2 ]
Cruz, Phillip [3 ]
Hsu, Amy P. [1 ]
Rosen, Lindsey B. [1 ]
Tavella, Tatyana
Ferrer, Elise [4 ]
Zerbe, Christa S. [1 ]
Lionakis, Michail
Holland, Steve M. [1 ]
机构：
[1] NIAID, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA
[2] NIAID, Fungal Pathogenesis Unit, LCID, 9000 Rockville Pike, Bethesda, MD 20892 USA
[3] NIAID, Computat Biol Sect, OCICB, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA
[4] NIH, Fungal Pathogenesis Unit, Lab Clin Infect Dis, Bethesda, MD USA
来源：
JOURNAL OF CLINICAL IMMUNOLOGY | 2016年 / 36卷 / 03期
关键词：
D O I：
暂无
中图分类号：
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号：
100102 ;
摘要：
4582
引用
收藏
页码：300 / 300
页数：1
相关论文
共 50 条
  • [1] 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
  • [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] 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
  • [4] 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
  • [5] 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
  • [6] Innate immune side of STAT1 GOF
    Sediva, Anna
    Parackova, Zuzana
    Zentsova, Irena
    Vrabcova, Petra
    Bloomfield, Marketa
    CLINICAL IMMUNOLOGY, 2023, 250 : 9 - 9
  • [7] STAT1 GOF: CHARACTERIZATION OF LIVER DISEASE
    Viana, Gracia
    Majeed, Nehna Abdul
    Rahman, Farial
    Kleiner, David E.
    Holland, Steven
    Freeman, Alexandra
    Koh, Christopher
    Bergersen, Jenna
    Heller, Theo
    HEPATOLOGY, 2022, 76 : S540 - S541
  • [8] 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
  • [9] 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
  • [10] 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
12345