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
  • [1] 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
  • [2] 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
  • [3] 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
  • [4] Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene
    Torgerson, Troy R.
    Linane, Avriel
    Moes, Nicolette
    Anover, Stephanie
    Mateo, Veronique
    Rieux-Laucat, Frederic
    Hermine, Olivier
    Vijay, Shashi
    Gambineri, Eleonora
    Cerf-Bensussan, Nadine
    Fischer, Alain
    Ochs, Hans D.
    Goulet, Olivier
    Ruemmele, Frank M.
    GASTROENTEROLOGY, 2007, 132 (05) : 1705 - 1717
  • [5] MILD PHENOTYPE OF IPEX SYNDROME CAUSED BY A NOVEL MUTATION OF EXON 12 OF THE FOXP3 GENE
    Wilson, Janna K. Flint
    Sanyoura, May
    Letourneau, Lisa
    Del Gaudio, Daniela
    Greeley, Siri Atma W.
    HORMONE RESEARCH IN PAEDIATRICS, 2017, 88 : 577 - 578
  • [6] 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
  • [7] 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
  • [8] A CASE OF IPEX SYNDROME WITH FOXP3 MISSENSE MUTATION
    Schroeder, N. D.
    Stallings, A.
    Saulsbury, F.
    Heymann, P.
    ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2012, 109 (05) : A91 - A91
  • [9] 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
  • [10] FOXP3 Gene Transfer in T cells and FOXP3 Gene Editing in HSC as Novel Treatment Options for IPEX Syndrome
    Goodwin, Marianne
    Sato, Yohei
    Passerini, Laura
    Barzaghi, Federica
    Lee, Esmond
    Suzette, Shipp K.
    Roncarolo, Maria Grazia
    Porteus, Matthew
    Bacchetta, Rosa
    JOURNAL OF CLINICAL IMMUNOLOGY, 2018, 38 (03) : 427 - 427