Extremely Early Onset IPEX Syndrome Caused by a Novel Small Exonic Deletion in FOXP3

被引:8
作者
Smith, Erika [1 ]
Greeley, Siri Atma W. [2 ]
Ye, Honggang [2 ]
Torgerson, Troy R. [3 ,4 ]
Dimmitt, Reed [1 ]
Atkinson, Prescott [1 ]
Philips, Joseph [1 ]
Goldman, Frederick [1 ]
机构
[1] Univ Alabama Birmingham, Birmingham, AL USA
[2] Univ Chicago, Kovler Diabet Ctr, Chicago, IL 60637 USA
[3] Univ Washington, Seattle, WA 98195 USA
[4] Seattle Childrens Hosp, Seattle, WA USA
关键词
ENTEROPATHY; POLYENDOCRINOPATHY; GENE;
D O I
10.1097/MPG.0000000000000554
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
引用
收藏
页码:E119 / E120
页数:2
相关论文
共 6 条
  • [1] The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome
    d'Hennezel, Eva
    Bin Dhuban, Khalid
    Torgerson, Troy
    Piccirillo, Ciriaco
    [J]. JOURNAL OF MEDICAL GENETICS, 2012, 49 (05) : 291 - 302
  • [2] Developmental changes of FOXP3-expressing CD4+CD25+ regulatory T cells and their impairment in patients with FOXP3 gene mutations
    Fuchizawa, Tatsuya
    Adachi, Yuichi
    Ito, Yasunori
    Higashiyarna, Hiroyuki
    Kanegane, Hirokazu
    Futatani, Takeshi
    Kobayashi, Ichiro
    Kamachi, Yoshiro
    Sakamoto, Tatsuo
    Tsuge, Ikuya
    Tanaka, Hiroshi
    Banham, Alison H.
    Ochs, Hans D.
    Miyawaki, Toshio
    [J]. CLINICAL IMMUNOLOGY, 2007, 125 (03) : 237 - 246
  • [3] Neonatal Diabetes: An Expanding List of Genes Allows for Improved Diagnosis and Treatment
    Greeley, Siri Atma W.
    Naylor, Rochelle N.
    Philipson, Louis H.
    Bell, Graeme I.
    [J]. CURRENT DIABETES REPORTS, 2011, 11 (06) : 519 - 532
  • [4] Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome
    Owen, CJ
    Jennings, CE
    Imrie, H
    Lachaux, A
    Bridges, NA
    Cheetham, TD
    Pearce, SHS
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2003, 88 (12) : 6034 - 6039
  • [5] Pediatric autoimmune enteropathy: an entity frequently associated with immunodeficiency disorders
    Singhi, Aatur D.
    Goyal, Alka
    Davison, Jon M.
    Regueiro, Miguel D.
    Roche, Robyn L.
    Ranganathan, Sarangarajan
    [J]. MODERN PATHOLOGY, 2014, 27 (04) : 543 - 553
  • [6] IPEX as a result of Mutations in FOXP3
    van der Vliet, Hans J. J.
    Nieuwenhuis, Edward E.
    [J]. CLINICAL & DEVELOPMENTAL IMMUNOLOGY, 2007,