Identification of a Novel Nonsense Mutation in NFKB1 Causing Common Variable Immunodeficiency with Decreased Tfh Cells

被引:1
|
作者
Li, Rui [1 ]
Qian, Jinjing [1 ]
Wang, Runci [1 ]
Wu, Chunmei [1 ]
Fu, Qiong [1 ]
Lu, Liangjing [1 ]
机构
[1] Shanghai Jiao Tong Univ, Renji Hosp, Dept Rheumatol, Sch Med, Shanghai 200001, Peoples R China
基金
中国国家自然科学基金;
关键词
NF-KAPPA-B;
D O I
10.1007/s10875-023-01588-3
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
引用
收藏
页码:1784 / 1787
页数:4
相关论文
共 50 条
  • [32] Decreased frequency of regulatory T cells in common variable immunodeficiency patients
    Melo, K.
    Carvalho, K.
    Bruno, F.
    Ndhlovu, L.
    Nixon, D.
    Kallas, E.
    Costa-Carvalho, B.
    ALLERGY, 2009, 64 : 259 - 259
  • [33] A Decreased Frequency of Regulatory T Cells in Patients with Common Variable Immunodeficiency
    Melo, Karina M.
    Carvalho, Karina I.
    Bruno, Fernanda R.
    Ndhlovu, Lishomwa C.
    Ballan, Wassim M.
    Nixon, Douglas F.
    Kallas, Esper G.
    Costa-Carvalho, Beatriz T.
    PLOS ONE, 2009, 4 (07):
  • [34] Novel NFKB2 Pathogenic Variants in Two Unrelated Patients with Common Variable Immunodeficiency
    Sundaram, Kruthika
    Ferro, Micol
    Hayman, Grant
    Ibrahim, Mohammad A. A.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2023, 43 (06) : 1159 - 1164
  • [35] Novel NFKB2 Pathogenic Variants in Two Unrelated Patients with Common Variable Immunodeficiency
    Kruthika Sundaram
    Micol Ferro
    Grant Hayman
    Mohammad A. A. Ibrahim
    Journal of Clinical Immunology, 2023, 43 : 1159 - 1164
  • [36] Vulnerability to meningococcal disease in immunodeficiency due to a novel pathogenic missense variant in NFKB1 (vol 12, 767188, 2021)
    Anim, Manfred
    Sogkas, Georgios
    Schmidt, Gunnar
    Dubrowinskaja, Natalia
    Witte, Torsten
    Schmidt, Reinhold Ernst
    Atschekzei, Faranaz
    FRONTIERS IN IMMUNOLOGY, 2023, 14
  • [37] A NOVEL MUTATION OF IL21R IN A PATIENT WITH COMMON VARIABLE IMMUNODEFICIENCY
    Huq, M.
    Callahan, M.
    Shankar, A.
    Hostoffer, R.
    ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2022, 129 : S122 - S122
  • [38] A novel NFkB1 (nuclear factor kappa B1) mutation (c.A2415G; p.Q805Q) associated with pyoderma gangrenosumand common variable immune deficiency
    Thompson, Alison
    Brooks, Joel
    Freudzon, Marianna
    Ramachandran, Sarika
    Dreyfus, David H.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2018, 38 (03) : 339 - 339
  • [39] Novel Mutations in TACI (TNFRSF13B) Causing Common Variable Immunodeficiency
    Mohammadi, Javad
    Liu, Chonghai
    Aghamohammadi, Asghar
    Bergbreiter, Astrid
    Du, Likun
    Lu, Jiayi
    Rezaei, Nima
    Amirzargar, Ali Akbar
    Moin, Mostafa
    Salzer, Ulrich
    Pan-Hammarstrom, Qiang
    Hammarstrom, Lennart
    JOURNAL OF CLINICAL IMMUNOLOGY, 2009, 29 (06) : 777 - 785
  • [40] Novel Mutations in TACI (TNFRSF13B) Causing Common Variable Immunodeficiency
    Javad Mohammadi
    Chonghai Liu
    Asghar Aghamohammadi
    Astrid Bergbreiter
    Likun Du
    Jiayi Lu
    Nima Rezaei
    Ali Akbar Amirzargar
    Mostafa Moin
    Ulrich Salzer
    Qiang Pan-Hammarström
    Lennart Hammarström
    Journal of Clinical Immunology, 2009, 29 : 777 - 785