More severe than CVID: Combined immunodeficiency due to a novel NFKB2 mutation

被引:9
|
作者
Bienias, Marc [1 ]
Gabrielyan, Anastasia [1 ]
Geberzahn, Linda [1 ]
Roesen-Wolff, Angela [1 ]
Huebner, Angela [1 ]
Jacobsen, Eva-Maria [2 ]
Toepfner, Nicole [1 ]
Fang, Mingyan [3 ]
Lee-Kirsch, Min Ae [1 ]
Roesler, Joachim [1 ]
Schuetz, Catharina [1 ]
机构
[1] Tech Univ Dresden, Med Fac Carl Gustav Carus, Dept Pediat, Dresden, Germany
[2] Ulm Univ, Med Ctr, Dept Pediat, Ulm, Germany
[3] BGI Genom, Shenzhen, Peoples R China
关键词
NF-KAPPA-B; DEFICIENCY;
D O I
10.1111/pai.13441
中图分类号
R392 [医学免疫学];
学科分类号
100102 ;
摘要
引用
收藏
页码:791 / 795
页数:6
相关论文
共 50 条
  • [31] Identification of a novel NFKB2 mutation in a patient presenting with autoimmune cytopenia and generalized granulomatous lymphadenopathy
    Al Ghamdi, Abdulrahman
    Sham, Marina
    Fuentes, Laura Abrego
    Vong, Linda
    LYMPHOSIGN JOURNAL-THE JOURNAL OF INHERITED IMMUNE DISORDERS, 2023, 10 (01): : 7 - 14
  • [32] 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
  • [33] NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature
    Shi, Chuan
    Wang, Fen
    Tong, Anli
    Zhang, Xiao-Qian
    Song, Hong-Mei
    Liu, Zheng-Yin
    Lyu, Wei
    Liu, Yue-Hua
    Xia, Wei-Bo
    MEDICINE, 2016, 95 (40)
  • [34] Severe Combined Immunodeficiency Associated with a Novel IL2RG Mutation
    Robertson, Kent
    Nelson, Robert
    Goebel, W. Scott
    Gowan, Darla
    Boyd, Kathleen
    Tsangaris, Michael
    Puck, Jennifer
    Haut, Paul
    CLINICAL IMMUNOLOGY, 2009, 131 : S150 - S150
  • [35] Extremely low immunoglobulins in a patient with CVID phenotype and TNFRSF13B and NFKB2 variants
    Sheng, Gloria
    Acar, Utkucan
    Kohn, Lisa
    Butte, Manish
    Lloret, Maria Garcia
    Lin, Connie
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2022, 149 (02) : AB27 - AB27
  • [36] A novel mutation in the Nfkb2 gene generates-an NF-κB2 "Super repressor"
    Tucker, Elena
    O'Donnel, Kristy
    Fuchsberger, Martina
    Hilton, Adrienne A.
    Metcalft, Donald
    Greig, Kylie
    Sims, Natalie A.
    Quinn, Julian M.
    Alexander, Warren S.
    Hilton, Douglas J.
    Kile, Benjamin T.
    Tarlinton, David M.
    Starr, Robyn
    JOURNAL OF IMMUNOLOGY, 2007, 179 (11): : 7514 - 7522
  • [37] A NOVEL NFKB2 MUTATION INTERFERES WITH THE ACTIVITY OF CANONICAL AND NONCANONICAL NF KAPPA B SIGNALLING PATHWAY
    Liu, Yiwen
    Ibrahim, Mohammad A. A.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2016, 36 (03) : 300 - 300
  • [38] Incidental Diagnosis of NFKB2 Mutation in Patient with ACTH Deficiency and Low IgA
    Kartha, Navya
    Boppana, Sushmitha
    White, Erik
    Li, Jinzhu
    CLINICAL IMMUNOLOGY, 2024, 262
  • [39] A SEVERE COMBINED IMMUNODEFICIENCY MUTATION IN THE MOUSE
    BOSMA, GC
    CUSTER, RP
    BOSMA, MJ
    NATURE, 1983, 301 (5900) : 527 - 530
  • [40] NOVEL NFKB1 MUTATION IN A FEMALE WITH COMMON VARIABLE IMMUNE DEFICIENCY (CVID)
    Blunk, H.
    Kohli, E.
    Hostoffer, R.
    ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2024, 133 (06) : S147 - S148