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 50 条
  • [31] Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX)
    Kobayashi, I
    Shiari, R
    Yamada, M
    Kawamura, N
    Okano, M
    Yara, A
    Iguchi, A
    Ishikawa, N
    Ariga, T
    Sakiyama, Y
    Ochs, HD
    Kobayashi, K
    JOURNAL OF MEDICAL GENETICS, 2001, 38 (12) : 874 - 876
  • [32] 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
  • [33] A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the IPEX syndrome
    Bennett, CL
    Brunkow, ME
    Ramsdell, F
    O'Briant, KC
    Zhu, Q
    Fuleihan, RL
    Shigeoka, AO
    Ochs, HD
    Chance, PF
    IMMUNOGENETICS, 2001, 53 (06) : 435 - 439
  • [34] A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the IPEX syndrome
    Craig L. Bennett
    Mary E. Brunkow
    Fred Ramsdell
    Kathy C. O'Briant
    Qili Zhu
    Ramsay L. Fuleihan
    Ann O. Shigeoka
    Hans D. Ochs
    Phillip F. Chance
    Immunogenetics, 2001, 53 : 435 - 439
  • [35] FOXP3 mutations identified in patients with IPEX syndrome reveal important functional domains of the protein
    Torgerson, TR
    Anover, S
    Lopes, J
    Vijay, S
    Ziegler, SF
    Ochs, HD
    ARTHRITIS AND RHEUMATISM, 2004, 50 (09): : S108 - S109
  • [36] 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
  • [37] Ipex syndrome: "Milder" clinical phenotypes with two novel FOXP3 mutations and functional defect of regulatory T lymphocytes.
    de Benedetti, F
    Muratori, F
    Insalaco, A
    Lamioni, A
    Giorda, E
    Ferretti, F
    Diamanti, A
    Castro, M
    Cusano, M
    Perroni, L
    Cortis, E
    Ugazio, AG
    ARTHRITIS AND RHEUMATISM, 2004, 50 (09): : S361 - S362
  • [38] Efficient and sustained FOXP3 locus editing in hematopoietic stem cells as a therapeutic approach for IPEX syndrome
    Singh, Swati
    Pugliano, Cole M.
    Honaker, Yuchi
    Laird, Aidan
    DeGottardi, M. Quinn
    Lopez, Ezra
    Lachkar, Stefan
    Stoffers, Claire
    Sommer, Karen
    Khan, Iram F.
    Rawlings, David J.
    MOLECULAR THERAPY METHODS & CLINICAL DEVELOPMENT, 2024, 32 (01)
  • [39] The FOXP3Δ2 isoform supports Treg cell development and protects against severe IPEX syndrome
    Frith, Katie
    Joly, Anne-Laure
    Ma, Cindy S.
    Tangye, Stuart G.
    Lohse, Zuzana
    Seitz, Christina
    Verge, Charles F.
    Andersson, John
    Gray, Paul
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2019, 144 (01) : 317 - +
  • [40] Efficient and Sustained FOXP3 Locus Editing in Hematopoietic Stem Cells as a Therapeutic Approach for IPEX Syndrome
    Singh, Swati
    Khan, Iram
    Lopez, Ezra
    Rawlings, David J.
    MOLECULAR THERAPY, 2019, 27 (04) : 391 - 392