Heterozygous AIRE Mutation in a Family with Multiple Autoimmune Organ Involvement

被引：0
|
作者：
Sefer, Asena Pinar [1 ]
Kolukisa, Burcu Kocamis [1 ]
Akcam, Bengu [2 ]
Demirkol, Yasemin Kendir [3 ]
Aydiner, Elif Karakoc [1 ]
Ozen, Ahmet [1 ]
Baris, Safa [4 ]
机构：
[1] Marmara Univ Hosp, Dept Pediat Immunol & Allergy, Istanbul, Turkey
[2] Marmara Univ, Pendik Res & Training Hosp, Istanbul, Turkey
[3] Umraniye Res & Training Hosp, Dept Pediat Genet Dis, Istanbul, Turkey
[4] Umraniye Res & Training Hosp, Dept Pediat Immunol & Allergy, Pediat, Istanbul, Turkey
来源：
JOURNAL OF CLINICAL IMMUNOLOGY | 2021年 / 41卷 / SUPPL 1期
关键词：
AIRE; autoimmunity; heterozygous mutation; APDS;
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：
171
引用
收藏
页码：S102 / S102
页数：1
相关论文
共 50 条
  • [41] A Functional Alternative Splicing Mutation in AIRE Gene Causes Autoimmune Polyendocrine Syndrome Type 1
    Zhang, Junyu
    Liu, Hongbin
    Liu, Zhiyuan
    Liao, Yong
    Guo, Luo
    Wang, Honglian
    He, Lin
    Zhang, Xiaodong
    Xing, Qinghe
    PLOS ONE, 2013, 8 (01):
  • [42] The heterozygous EDNRB mutation in a Chinese family with Waardenburg syndrome type Ⅰ
    Huan-Huan Cheng
    Shi-Qi Ling
    Pei-Zhen Zhao
    Wei-Li Li
    Juan Deng
    International Journal of Ophthalmology, 2019, (09) : 1507 - 1509
  • [43] A heterozygous mutation in NOTCH3 in a Chinese family with CADASIL
    Li, Juyi
    Luo, Tao
    Wang, Xiufang
    Wang, Mengjie
    Zheng, Tao
    Dang, Xiao
    Deng, Aiping
    Zhang, Youzhi
    Ding, Sheng
    Jing, Ping
    Zhu, Lin
    FRONTIERS IN GENETICS, 2022, 13
  • [44] Novel mutation of the autoimmune regulator (AIRE) gene in an Argentine patient with autoimmune polyglandular syndrome type 1 (APS1)
    Bazzara, Leonardo
    Munoz, Liliana
    Nievas, Valeria
    Castro, Laura
    Ayan, Diana
    Paez, Alejandra
    Inchaurregui, Elida
    Khon, Joaquin
    Nunez, Mary
    Miras, Mirta
    HORMONE RESEARCH, 2008, 70 : 183 - 183
  • [45] A NOVEL HETEROZYGOUS MUTATION OF THE AGGRECAN GENE IN A JAPANESE FAMILY WITH IDIOPATHIC SHORT STATURE AND MULTIPLE INTERVERTEBRAL DISC HERNIATION
    Dateki, Sumito
    Nakatomi, Akiko
    Watanabe, Satoshi
    Shimizu, Hitomi
    Moriuchi, Hiroyuki
    HORMONE RESEARCH IN PAEDIATRICS, 2017, 88 : 499 - 499
  • [46] Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation
    Dateki, Sumito
    Nakatomi, Akiko
    Watanabe, Satoshi
    Shimizu, Hitomi
    Inoue, Yukiko
    Baba, Hideo
    Yoshiura, Koh-ichiro
    Moriuchi, Hiroyuki
    JOURNAL OF HUMAN GENETICS, 2017, 62 (07) : 717 - 721
  • [47] Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation
    Sumito Dateki
    Akiko Nakatomi
    Satoshi Watanabe
    Hitomi Shimizu
    Yukiko Inoue
    Hideo Baba
    Koh-ichiro Yoshiura
    Hiroyuki Moriuchi
    Journal of Human Genetics, 2017, 62 : 717 - 721
  • [48] SJOGREN-LIKE SYNDROME, MULTIPLE AUTOIMMUNE DISEASES, THYMOMA AND GENETIC VARIANTS IN AIRE
    Cramer, J.
    Husar-Memmer, E.
    Schoerghofer, D.
    Zwerina, J.
    Uyanik, G.
    Fritsch-Stork, R.
    ANNALS OF THE RHEUMATIC DISEASES, 2022, 81 : 220 - 221
  • [49] Autoimmune Hepatitis in the Setting of Iron Overload Secondary to Heterozygous HFE Gene Mutation
    Chauhan, Sukhjinder
    Zackria, Rasiq
    Mukhopadhyay, Deb K.
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2022, 14 (08)
  • [50] Duodenal Papillitis Represents "Other Organ Involvement" in Autoimmune Pancreatitis
    Kubota, Kensuke
    Kato, Shingo
    Watanabe, Seitaro
    Shimamura, Takeshi
    Kobayashi, Noritoshi
    Nakajima, Atsushi
    GASTROINTESTINAL ENDOSCOPY, 2010, 71 (05) : AB228 - AB229
12345