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
  • [1] Identification, functional characterization and expression pattern of interferon-gamma (IFN-γ) and interferon-gamma receptor 1 (IFNGR1) in Nibea albiflora
    Liu, Yongxin
    Li, Kaihui
    Wenren, Mingming
    Cheng, Wei
    Zhou, Xu
    Xu, Dongdong
    Chi, Changfeng
    Lue, Zhenming
    Liu, Huihui
    FISH & SHELLFISH IMMUNOLOGY, 2024, 144
  • [2] Interferon-γ Receptor 1 Deficiency Corrected by Umbilical Cord Blood Transplantation
    Thomas F. Michniacki
    Kelly J. Walkovich
    David G. Frame
    Mark T. Vander Lugt
    Journal of Clinical Immunology, 2019, 39 : 257 - 260
  • [3] Interferon-γ Receptor 1 Deficiency Corrected by Umbilical Cord Blood Transplantation
    Michniacki, Thomas F.
    Walkovich, Kelly J.
    Frame, David G.
    Vander Lugt, Mark T.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2019, 39 (03) : 257 - 260
  • [4] A case of disseminated Mycobacterium flavescens in a child with a novel combination of compound heterozygous variants in IFNGR1 leading to complete IFNGR1 deficiency
    Christian, Elizabeth
    LaBere, Brenna
    Johnston, Alicia
    JOURNAL OF CLINICAL IMMUNOLOGY, 2021, 41 (SUPPL 1) : S81 - S82
  • [5] INTERFERON GAMMA RECEPTOR 1 DEFICIENCY (IFNGR1) WITH NEGATIVE QUANTIFERON GOLD AND ELEVATED C-REACTIVE PROTEIN
    DuBuske, I.
    McKnight, C.
    ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2018, 121 (05) : S103 - S103
  • [6] A novel mutation in Wiskott-Aldrich syndrome and successfully treated with umbilical cord blood transplantation
    Zhu, Xiaoyu
    Tang, Baolin
    Zheng, Changcheng
    Liu, Huilan
    Song, Kaidi
    Sun, Zimin
    BLOOD CELLS MOLECULES AND DISEASES, 2014, 53 (04) : 283 - 285
  • [7] Expression of Interferon-gamma Receptors, IFNGR1 and IFNGR2, in the Uterine Endometrium during the Estrous Cycle and Pregnancy in Pigs
    Kim, Mingoo
    Shim, Jangsoo
    Seo, Heewon
    Choi, Yohan
    Ka, Hakhyun
    BIOLOGY OF REPRODUCTION, 2011, 85
  • [8] TAQL RFLP IN THE INTERFERON GAMMA RECEPTOR-1 GENE (IFNGR1) ON HUMAN CHROMOSOME-6Q
    HAUPTSCHEIN, R
    DALLAFAVERA, R
    GAIDANO, G
    NUCLEIC ACIDS RESEARCH, 1992, 20 (05) : 1158 - 1158
  • [9] Missense mutations of the interleukin-12 receptor beta 1(IL12RB1) and interferon-gamma receptor 1 (IFNGR1) genes are not associated with susceptibility to lepromatous leprosy in Korea
    Lee, SB
    Kim, BC
    Jin, SH
    Park, YG
    Kim, SK
    Kang, TJ
    Chae, GT
    IMMUNOGENETICS, 2003, 55 (03) : 177 - 181
  • [10] Missense mutations of the interleukin-12 receptor beta 1(IL12RB1) and interferon-gamma receptor 1 (IFNGR1) genes are not associated with susceptibility to lepromatous leprosy in Korea
    Seong-Beom Lee
    Byoung Chul Kim
    Song Hou Jin
    Yong-Gyu Park
    Se-Kon Kim
    Tae-Jin Kang
    Gue-Tae Chae
    Immunogenetics, 2003, 55 : 177 - 181
12345