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
  • [31] Heterogeneity in IPEX Syndrome: A Foxp3 Mutation Causing Type 1 Diabetes without Enteropathy
    Cartwright, Bethany
    Grishman, Ellen
    HORMONE RESEARCH IN PAEDIATRICS, 2021, 94 (SUPPL 2): : 63 - 63
  • [32] The FOXP3 Gene Mutation in Infancy with Immune Dysregulation, Polyenocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome in Hungary
    Csuerke, I.
    Rieux-Laucat, F.
    Szabo, A.
    Dicso, F.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 : S206 - S207
  • [33] IPEX as a result of Mutations in FOXP3
    van der Vliet, Hans J. J.
    Nieuwenhuis, Edward E.
    CLINICAL & DEVELOPMENTAL IMMUNOLOGY, 2007,
  • [34] Early Successful Hematopoietic Cell Transplantation (HSCT) in a Boy with IPEX Syndrome Caused by Novel C.721T > C FOXP3 Mutation
    Obermannova, Barbora
    Formankova, Renata
    Sumnik, Zdenek
    Dusatkova, Lenka
    Pruhova, Stepanka
    Kayserova, Jana
    Sedlacek, Petr
    Lebl, Jan
    HORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 86 - 86
  • [35] Case Report: FOXP3 Mutation in a Patient Presenting With ALPS
    Rais, Afef
    Mekki, Najla
    Fedhila, Faten
    Alosaimi, Mohammed Faraj
    Ben Khaled, Monia
    Zameli, Amal
    Agrebi, Nourhen
    Sellami, Maryam Kallel
    Geha, Raif
    Ben-Mustapha, Imen
    Barbouche, Mohamed-Ridha
    FRONTIERS IN IMMUNOLOGY, 2021, 12
  • [36] The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
    Bennett, CL
    Christie, J
    Ramsdell, F
    Brunkow, ME
    Ferguson, PJ
    Whitesell, L
    Kelly, TE
    Saulsbury, FT
    Chance, PF
    Ochs, HD
    NATURE GENETICS, 2001, 27 (01) : 20 - 21
  • [37] The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
    Craig L. Bennett
    Jacinda Christie
    Fred Ramsdell
    Mary E. Brunkow
    Polly J. Ferguson
    Luke Whitesell
    Thaddeus E. Kelly
    Frank T. Saulsbury
    Phillip F. Chance
    Hans D. Ochs
    Nature Genetics, 2001, 27 : 20 - 21
  • [38] A unique mutation in an upstream region of the FOXP3 gene causes IPEX by aberrant mRNA splicing and lack of FOXP3+Treg.
    Anover, Stephanie
    Linane, Avriel
    Vijay, Shashi
    Gambineri, Eleonora
    Goulet, Olivier
    Moes, N.
    Ruemmele, Frank
    Ochs, Hans
    Torgerson, Troy
    CLINICAL IMMUNOLOGY, 2006, 119 : S139 - S139
  • [39] Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome
    Harbuz, Radu
    Lespinasse, James
    Boulet, Stephanie
    Francannet, Christine
    Creveaux, Isabelle
    Benkhelifa, Mariem
    Jouk, Pierre-Simon
    Lunardi, Joel
    Ray, Pierre F.
    PRENATAL DIAGNOSIS, 2010, 30 (11) : 1072 - 1078
  • [40] Late Diagnosis of IPEX in a Carrier of a Disease-Associated Mutation in FOXP3
    Notarangelo, L. D.
    Moratto, D.
    Chiarini, M.
    Masneri, S.
    Mazza, C.
    Casanova, J. L.
    Boisson, B.
    Notarangelo, L. D.
    Giliani, S.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 : S211 - S211
12345