A novel NFKB2 mutation in a Chinese patient with DAVID syndrome

被引:5
|
作者
Xiao, Bing [1 ,2 ]
Fang, Di [1 ,2 ]
Liu, Huili [1 ,2 ]
Wang, Lili [1 ,2 ]
Qiu, Wenjuan [1 ,2 ]
机构
[1] Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Shanghai, Peoples R China
[2] Shanghai Inst Pediat Res, Shanghai, Peoples R China
关键词
NF-KAPPA-B; CELL CYTOTOXIC ACTIVITY; DEFICIENCY;
D O I
10.1016/j.gene.2018.12.050
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:319 / 322
页数:4
相关论文
共 50 条
  • [41] Detection of NFKB2 3'end Loos By Quantitative PCR (QPCR) or Detection of NFKB2 Rearrangements Correlate with Bortezomib Response in Multiple Myeloma
    Ramachandiran, Sampath
    Koff, Jean L.
    Garderet, Laurent
    Saxe, Debra
    Ikhlef, Souhila
    Kelkar, Nyaya
    Kaplan, Lee
    El-Cheikh, Jean
    Switchenko, Jeffrey M.
    Sunay, Susan
    Khoury, Hanna J.
    Kaufman, Jonathan L.
    Lonial, Sagar
    Boise, Lawrence H.
    Kowalski, Jeanne
    Bernal-Mizrachi, Leon
    BLOOD, 2014, 124 (21)
  • [42] Molecular impact of selective NFKB1 and NFKB2 signaling on DLBCL phenotype
    X Guo
    J L Koff
    A B Moffitt
    M Cinar
    S Ramachandiran
    Z Chen
    J M Switchenko
    M Mosunjac
    S G Neill
    K P Mann
    M Bagirov
    Y Du
    Y Natkunam
    H J Khoury
    M R Rossi
    W Harris
    C R Flowers
    I S Lossos
    L H Boise
    S S Dave
    J Kowalski
    L Bernal-Mizrachi
    Oncogene, 2017, 36 : 4224 - 4232
  • [43] Normal NFKB2 gene by sanger sequencing in a patient with hypogammaglobulinaemia, alopecia and central adrenal insufficiency
    Tadros, S.
    Martini, H.
    Verma, N.
    Karafotias, I
    Sundaram, K.
    Gross-Kreul, D.
    Gooi, H.
    Adhya, Z.
    Ibrahim, M.
    ALLERGY, 2019, 74 : 518 - 518
  • [44] A novel CHD7 mutation in a Chinese patient with CHARGE syndrome
    Liu, Lanbo
    Yu, Tingting
    Wang, Lili
    Mo, Xi
    Yu, Yongguo
    META GENE, 2014, 2 : 469 - 478
  • [45] A novel splicing mutation in CLCNKB in a Chinese patient with Bartter syndrome type Ⅲ
    DONG YanJI GangFENG QiwenZENG Xianting and JIANG Gengru Department of Endocrinology Department of NephrologyXinhua Hospital Shanghai Jiao Tong University School of MedicineShanghai China National Engineering Center for Biochip at ShanghaiShanghai China
    中华医学杂志(英文版), 2010, (21) : 3151 - 3153
  • [46] Novel growth hormone receptor mutation in a Chinese patient with Laron syndrome
    Hui, HNT
    Metherell, LA
    Ng, KL
    Savage, MO
    Camacho-Hübner, C
    Clark, AJL
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2005, 18 (02): : 209 - 213
  • [47] Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype
    Kuehn, Hye Sun
    Niemela, Julie E.
    Sreedhara, Karthik
    Stoddard, Jennifer L.
    Grossman, Jennifer
    Wysocki, Christian A.
    de la Morena, M. Teresa
    Garofalo, Mary
    Inlora, Jingga
    Snyder, Michael P.
    Lewis, David B.
    Stratakis, Constantine A.
    Fleisher, Thomas A.
    Rosenzweig, Sergio D.
    BLOOD, 2017, 130 (13) : 1553 - 1564
  • [48] Heterozygous Mutations in NFKB2 Exhibit a Broad Clinical Phenotype
    Newman, Erik N.
    Feusier, Julie
    Jacob, Shancy P.
    Jorde, Lynn B.
    Hill, Harry R.
    Hanson, Celine
    Izawa, Kazushi
    Leahy, T. Ronan
    Yamada, Masafumi
    Rae, William
    Hauck, Fabian
    Abolhassani, Hassan
    Aghamohammadi, Asghar
    Hammarstrom, Lennart
    Kanegane, Hirokazu
    Slade, Charlotte
    Roifman, Chaim M.
    Grimbacher, Bodo
    Zimmerman, Guy A.
    Bohnsack, John F.
    Chen, Karin
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2018, 141 (02) : AB21 - AB21
  • [49] The generation of nfkb2 p52:: mechanism and efficiency
    Heusch, M
    Lin, L
    Geleziunas, R
    Greene, WC
    ONCOGENE, 1999, 18 (46) : 6201 - 6208
  • [50] Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutation
    Spangenberg, Maria Noel
    Grille, Sofia
    Simoes, Camila
    Brandes, Mariana
    Garcia-Luna, Joaquin
    Catalan, Ana Ines
    Ranero, Sabrina
    Boada, Matilde
    Brugnini, Andreina
    Trias, Natalia
    Lens, Daniela
    Raggio, Victor
    Spangenberg, Lucia
    FRONTIERS IN ONCOLOGY, 2023, 13