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
  • [41] Identification of important functional domains of FOXP3 by analysis of mutations present in patients with IPEX syndrome.
    Torgerson, TR
    Gambineri, E
    Vijay, S
    Anover, S
    Ochs, HD
    CLINICAL IMMUNOLOGY, 2005, 115 : S10 - S10
  • [42] IPEX (IMMUNE DYSREGULATION, POLYENDOCRINOPATHY, ENTEROPATHY, X-LINKED) SYNDROME WITH NORMAL FOXP3 PROTEIN EXPRESSION
    Seghezzo, S.
    Ker, J.
    Bleesing, J.
    ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2015, 115 (05) : A85 - A85
  • [43] Clinical and structural impact of mutations affecting the residue Phe367 of FOXP3 in patients with IPEX syndrome
    Colobran, Roger
    Alvarez de la Campa, Elena
    Soler-Palacin, Pere
    Martin-Nalda, Andrea
    Pujol-Borrell, Ricardo
    de la Cruz, Xavier
    Martinez-Gallo, Monica
    CLINICAL IMMUNOLOGY, 2016, 163 : 60 - 65
  • [44] Characterization of the function and co-expression patterns of human FOXP3 isoforms and their role in IPEX syndrome development
    Darrasse-Jeze, G.
    Bessard, M. A.
    Kaci, K.
    Rieux-Laucat, F.
    Klatzmann, D.
    Cavazzana-Calvo, M.
    IMMUNOLOGY, 2012, 137 : 15 - 16
  • [45] FOXP3 expression following bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning
    Dorsey, Morna J.
    Petrovic, A.
    Morrow, M. R.
    Dishaw, L. J.
    Sleasman, J. W.
    IMMUNOLOGIC RESEARCH, 2009, 44 (1-3) : 179 - 184
  • [46] CHARACTERIZATION OF THE FUNCTION AND CO-EXPRESSION PATTERNS OF HUMAN FOXP3 ISOFORMS AND THEIR ROLE IN IPEX SYNDROME DEVELOPMENT
    Darrasse-Jeze, G.
    Bessard, M. -A.
    Kaci, K.
    Rieux-Laucat, F.
    Klatzmann, D.
    Fischer, A.
    Cavazzana-Calvo, M.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2012, 32 : 50 - 51
  • [47] Differences in FOXP3 and CD127 expression in Treg-like cells in patients with IPEX syndrome
    Boldt, A.
    Kentouche, K.
    Fricke, S.
    Borte, S.
    Kahlenberg, F.
    Sack, U.
    CLINICAL IMMUNOLOGY, 2014, 153 (01) : 109 - 111
  • [48] Characterization of the function and co-expression patterns of human FOXP3 isoforms and their role in IPEX syndrome development
    Darrasse-Jeze, Guillaume
    JOURNAL OF IMMUNOLOGY, 2015, 194
  • [49] Foxp3 expression following bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning
    Dorsey, Morna J.
    Petrovic, Aleksandra
    Morrow, Matthew R.
    Sleasman, John W.
    Dishaw, Larry J.
    CLINICAL IMMUNOLOGY, 2007, 123 : S43 - S43
  • [50] New mutation in FOXP3 gene identified in an infant with chronic diarrhea as manifestation of autoinmune enteropathy - IPEX syndrome
    Plata Garcia, Clara
    Martin-Marin, Lorena
    Soler-Ramirez, Angela
    Rojas, Jorge A.
    Salazar, Maria P.
    REVISTA CHILENA DE PEDIATRIA-CHILE, 2020, 91 (04): : 584 - 590