IPEX Syndrome Caused by A Novel Mutation in Foxp3 Gene: A Case Report

被引：0
|
作者：
Ngoc Can Thi Bich [1 ]
Dung Vu Chi [1 ]
Thao Bui Phuong [1 ]
Khanh Nguyen Ngoc [1 ]
Mai Do Thi Thanh [1 ]
Johnson, Matthew [2 ]
De Franco, Elisa [2 ]
Ellard, Sian [3 ]
机构：
[1] Vietnam Childrens Hosp, Hanoi, Vietnam
[2] Univ Exeter, Exeter, Devon, England
[3] Peninsula Med Sch, Exeter, Devon, England
来源：
HORMONE RESEARCH IN PAEDIATRICS | 2016年 / 86卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
P2-P573
引用
收藏
页码：353 / 354
页数：2
相关论文
共 50 条
  • [21] Severe DKA in a 3-week-old Male as the Initial Presentation of IPEX Syndrome Associated with a Novel Mutation in the FOXP3 Gene
    Pinto, Bianca
    Garibaldi, Luigi
    Greeley, Siri
    HORMONE RESEARCH IN PAEDIATRICS, 2020, 93 : 137 - 137
  • [22] IPEX and 'IPEX-Like' Syndrome: FOXP3 and Related Pathway
    Mannurita, Sara Ciullini
    Vignoli, Marina
    Bacchetta, Rosa
    Cecconi, Massimiliano
    Tommasini, Alberto
    Gennery, Andrew R.
    Cant, Andrew J.
    Gambineri, Eleonora
    JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 (03) : 365 - 365
  • [23] Exploring 'IPEX-like Syndrome': What is Beyond FOXP3 Gene?
    Vignoli, Marina
    Mannurita, Sara Ciullini
    Bianchi, Lucia
    Bacchetta, Rosa
    Cecconi, Massimiliano
    Tommasini, Alberto
    Abinun, Mario
    Gennery, Andy
    Hambleton, Sophie
    Slatter, Mary
    Cant, Andrew
    de Martino, Maurizio
    Gambineri, Eleonora
    CLINICAL IMMUNOLOGY, 2010, 135 : S140 - S140
  • [24] Mutations of FOXP3 causing IPEX syndrome.
    Gambineri, E
    Torgerson, TR
    Bennett, CL
    Amoroso, A
    Barker, DF
    Cunningham-Rundles, C
    Notarangelo, L
    Ronchetti, R
    Sakiyama, Y
    Ochs, HD
    CLINICAL IMMUNOLOGY, 2002, 103 (03) : S139 - S140
  • [25] IPEX with normal FOXP3 gene and diminished expression
    Solomon, M
    Ochs, H
    Hostoffer, R
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2006, 117 (02) : S290 - S290
  • [26] New mutation in FOXP3 gene identified in an infant with chronic diarrhea as manifestation of autoinmune enteropathy - IPEX syndrome
    Plata Garcia, Clara
    Martin-Marin, Lorena
    Soler-Ramirez, Angela
    Rojas, Jorge A.
    Salazar, Maria P.
    REVISTA CHILENA DE PEDIATRIA-CHILE, 2020, 91 (04): : 584 - 590
  • [27] A novel FOXP3 mutation in a Chinese child with IPEX-associated membranous nephropathy
    Tan, Liwen
    An, Yunfei
    Yang, Qin
    Yang, Haiping
    Zhang, Gaofu
    Li, Qiu
    Wang, Mo
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2022, 10 (06):
  • [28] IPEX syndrome with normal FOXP3 coding region sequences but diminished FOXP3 transcription and translation: An implied FOXP3 regulatory gene defect.
    Schaffer, Frederick
    Cochran, Joe
    Key, L.
    Chatila, Total
    Anover, S.
    Hockett, M.
    Ochs, Hans
    Torgerson, Troy
    CLINICAL IMMUNOLOGY, 2006, 119 : S131 - S132
  • [29] IL-27 gene therapy ameliorates IPEX syndrome caused by germline mutation of Foxp3 gene: a major role for induction of IL-10
    Bai, Xue-Feng
    Liu, Jin-Qing
    Jabbari, Ali
    Frankel, Wendy
    He, Kai
    Zheng, Pan
    Liu, Yang
    JOURNAL OF IMMUNOLOGY, 2024, 212 (01):
  • [30] IL-27 Gene Therapy Ameliorates IPEX Syndrome Caused by Germline Mutation of Foxp3 Gene: A Major Role for Induction of IL-10
    Liu, Jin-Qing
    Jabbari, Ali
    Lin, Cho-Hao
    Akkanapally, Venu
    Frankel, Wendy L.
    Basu, Sujit
    He, Kai
    Zheng, Pan
    Liu, Yang
    Bai, Xue-Feng
    JOURNAL OF IMMUNOLOGY, 2024, 213 (05):
12345