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
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
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[11]   Interferon-gamma (IFNG) and IFNGR1 Gene Variants are Associated with Atopic Dermatitis Complicated by Eczema Herpeticum (ADEH) and IFN Production [J].
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 [J].
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 [J].
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 [J].
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. [J].
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 [J].
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 [J].
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 [J].
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 [J].
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 [J].
Pappanicolaou, GJ ;
Parsa, NZ ;
Meltzer, PS ;
Trent, JM .
CYTOGENETICS AND CELL GENETICS, 1997, 76 (3-4) :181-182