A CASE OF IPEX SYNDROME WITH FOXP3 MISSENSE MUTATION

被引:0
|
作者
Schroeder, N. D.
Stallings, A.
Saulsbury, F.
Heymann, P.
机构
关键词
D O I
暂无
中图分类号
R392 [医学免疫学];
学科分类号
100102 ;
摘要
引用
收藏
页码:A91 / A91
页数:1
相关论文
共 50 条
  • [1] IPEX Syndrome Caused by A Novel Mutation in Foxp3 Gene: A Case Report
    Ngoc Can Thi Bich
    Dung Vu Chi
    Thao Bui Phuong
    Khanh Nguyen Ngoc
    Mai Do Thi Thanh
    Johnson, Matthew
    De Franco, Elisa
    Ellard, Sian
    HORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 353 - 354
  • [2] Renal Involvement in IPEX Syndrome With a Novel Mutation of FOXP3: A Case Report
    Ke, Ruijuan
    Zhu, Ying
    Deng, Fang
    Xu, Daliang
    FRONTIERS IN GENETICS, 2022, 12
  • [3] Novel FOXP3 Mutation in a Patient with Early Onset IPEX Syndrome
    Colombi, Carolina
    Tornese, Virginia
    Pena, Sonia
    Triguy, Jesica
    Peralta Roca, Belen
    Godoy, Clara Pott
    De Franco, Elisa
    HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 51 - 51
  • [4] From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation
    Bacchetta, Rosa
    Barzaghi, Federica
    Roncarolo, Maria-Grazia
    ANNALS OF THE NEW YORK ACADEMY OF SCIENCES, 2018, 1417 (01) : 5 - 22
  • [5] FOXP3 Forkhead Domain Mutation and Regulatory T Cells in the IPEX Syndrome
    d'Hennezel, Eva
    Ben-Shoshan, Moshe
    Ochs, Hans D.
    Torgerson, Troy R.
    Russell, Laura J.
    Lejtenyi, Christine
    Noya, Francisco J.
    Jabado, Nada
    Mazer, Bruce
    Piccirillo, Ciriaco A.
    NEW ENGLAND JOURNAL OF MEDICINE, 2009, 361 (17): : 1710 - 1713
  • [6] An atypical case of IPEX syndrome with multiple FOXP3 mutations.
    Gambineri, E
    Azzari, C
    Moriondo, M
    Bianchi, L
    Gelli, AMG
    Vierucci, A
    de Martino, M
    CLINICAL IMMUNOLOGY, 2005, 115 : S138 - S138
  • [7] 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
  • [8] 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
  • [9] IPEX Syndrome in Siblings with a Novel Variant in FOXP3
    Hines, Brittany
    Wright, Benjamin L.
    Wadera, Sheetal
    Cac, Natalie
    Miller, Holly K.
    Abraham, Roshini S.
    Bauer, Cindy S.
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2019, 143 (02) : AB118 - AB118
  • [10] A CASE OF CONGENITAL ENTEROPATHY AND FAMILIAL MISSENSE MUTATION OF THE FOXP3 GENE
    Ludman, S.
    Connell, F.
    El Awad, M.
    Qasim, W.
    Martinez-Alier, N.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2012, 32 : 340 - 340