A Novel IFNGR1 Mutation Leading to Interferon-Gamma Receptor 1 Deficiency Treated Successfully with Umbilical Cord Blood Transplantation

被引：0
|
作者：
Michniacki, Thomas F. [1 ]
Walkovich, Kelly J. [1 ]
Vander Lugt, Mark T. [2 ]
机构：
[1] Univ Michigan, Pediat Hematol Oncol, Ann Arbor, MI 48109 USA
[2] Univ Michigan, Pediat Hematol Oncol, Bone Marrow Transplantat, Ann Arbor, MI 48109 USA
来源：
JOURNAL OF CLINICAL IMMUNOLOGY | 2018年 / 38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：
13
引用
收藏
页码：337 / 337
页数：1
相关论文
共 41 条
  • [11] Interferon-gamma (IFNG) and IFNGR1 Gene Variants are Associated with Atopic Dermatitis Complicated by Eczema Herpeticum (ADEH) and IFN Production
    Gao, P.
    Leung, D. Y.
    Rafaels, N. M.
    Boguniewicz, M.
    Armstrong, B.
    Zaccaro, D. J.
    Schneider, L. C.
    Hata, T. R.
    Hanifin, J. M.
    Beck, L. A.
    Weinberg, A.
    Barnes, K. C.
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2011, 127 (02) : AB137 - AB137
  • [12] INTERFERON-GAMMA FOR THE TREATMENT OF DISSEMINATED NON-TUBERCULOUS MYCOBACTERIUM IN A PATIENT WITH INTERFERON-GAMMA RECEPTOR-1 MUTATION
    Timothy, P.
    Leiding, J.
    Squire, J.
    Laham, F.
    ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2021, 127 (05) : S110 - S110
  • [13] The interferon gamma receptor 1 (IFNGR1)-56C/T gene polymorphism is associated with increased risk of early gastric carcinoma
    Canedo, P.
    Corso, G.
    Pereira, F.
    Lunet, N.
    Suriano, G.
    Figueiredo, C.
    Pedrazzani, C.
    Moreira, H.
    Barros, H.
    Carneiro, F.
    Seruca, R.
    Roviello, F.
    Machado, J. C.
    GUT, 2008, 57 (11) : 1504 - 1508
  • [14] The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-γ receptor 1 and has a dominant-negative effect on interferon-γ signal transduction
    Okada, Satoshi
    Ishikawa, Nobutsune
    Shirao, Ken'ichiro
    Kawaguchi, Hiroshi
    Tsumura, Miyuki
    Ohno, Yoshinori
    Yasunaga, Shin'ichiro
    Ohtsubo, Motoaki
    Takihara, Yoshihiro
    Kobayashi, Masao
    JOURNAL OF MEDICAL GENETICS, 2007, 44 (08) : 485 - 491
  • [15] A novel mutation 774del4 in IFNGR1, which produces truncated form of interferon γ receptor 1, causes a dominant-negative effect on interferon γ signal transduction.
    Okada, Satoshi
    Ishikawa, Nobutsune
    Shirao, Kenichirou
    Kawaguchi, Hiroshi
    Tsumura, Miyuki
    Ohno, Yoshinori
    Yasunaga, Shin'ichiro
    Ohtsubo, Motoaki
    Takihara, Yoshihiro
    Kobayashi, Masao
    BLOOD, 2006, 108 (11) : 367A - 367A
  • [16] Novel Mutation of Interferon-gamma Receptor 1 Gene Presenting as Early Life Mycobacterial Bronchial Disease
    Gutierrez, Maria J.
    Kalra, Neelu
    Horwitz, Alexandra
    Nino, Gustavo
    JOURNAL OF INVESTIGATIVE MEDICINE HIGH IMPACT CASE REPORTS, 2016, 4 (04):
  • [17] The chain 1 interferon gamma receptor (IFNGR1)-56C/T gene polymorphism is associated with increased risk of early gastric carcinoma
    Canedo, P.
    Pereira, F.
    Suriano, G.
    Figueiredo, C.
    Carneiro, F.
    Machado, J. C.
    HELICOBACTER, 2006, 11 (04) : 361 - 361
  • [18] HUMAN INTERFERON GAMMA RECEPTOR-1 (IFNGR1) GENE MAPS TO CHROMOSOME REGION 6Q23-6Q24
    LECONIAT, M
    ALCAIDELORIDAN, C
    FELLOUS, M
    BERGER, R
    HUMAN GENETICS, 1989, 84 (01) : 92 - 94
  • [19] Successful treatment of invasive mycobacterium infection with interferon beta in a patient with Interferon-Gamma Receptor 1 deficiency
    Alroqi, Fayhan
    Almutairi, Abduarahman
    Alhammadi, Moza
    Alhamdi, Shatha
    JOURNAL OF INFECTION AND PUBLIC HEALTH, 2024, 17 (08)
  • [20] Assignment of interferon gamma receptor (IFNGR1) to human chromosome bands 6q24.1->q24.2 by in situ hybridization
    Pappanicolaou, GJ
    Parsa, NZ
    Meltzer, PS
    Trent, JM
    CYTOGENETICS AND CELL GENETICS, 1997, 76 (3-4): : 181 - 182
12345