Immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome is a rare disorder in humans caused by germ-line mutations in the FOXP3 gene, a master transcriptional regulator for the development of CD4 regulatory T (Treg) cells. This T cell subset has global inhibitory functions that maintain immune homeostasis and mediate self-tolerance. Treg developmental deficiency or dysfunction is a hallmark of IPEX. It leads to severe, multi-organ, autoimmune phenomena including enteropathy, chronic dermatitis, endocrinopathy and other organ-specific diseases such as anaemia, thrombocytopenia, hepatitis and nephritis. In this review, the genetic, immunological and clinical characteristics of IPEX syndrome are described, and the impact of heritable mutations on the function of Treg cells highlighted.
机构:
Univ British Columbia, Dept Surg, Vancouver, BC V6H 3Z6, Canada
Vancouver Coastal Hlth Res Inst, Immun & Infect Res Ctr, Vancouver, BC, CanadaUniv British Columbia, Dept Surg, Vancouver, BC V6H 3Z6, Canada
Allan, Sarah E.
;
Alstad, Alicia N.
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Univ British Columbia, Dept Surg, Vancouver, BC V6H 3Z6, Canada
Vancouver Coastal Hlth Res Inst, Immun & Infect Res Ctr, Vancouver, BC, CanadaUniv British Columbia, Dept Surg, Vancouver, BC V6H 3Z6, Canada
Alstad, Alicia N.
;
Merindol, Natacha
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机构:
CHU St Justine, Ctr Rech, Unite Immunopathol Virale, Montreal, PQ, Canada
Univ Montreal, Fac Med, Dept Pediat, Montreal, PQ H3C 3J7, CanadaUniv British Columbia, Dept Surg, Vancouver, BC V6H 3Z6, Canada
Merindol, Natacha
;
Crellin, Natasha K.
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机构:
Univ British Columbia, Dept Surg, Vancouver, BC V6H 3Z6, Canada
Vancouver Coastal Hlth Res Inst, Immun & Infect Res Ctr, Vancouver, BC, CanadaUniv British Columbia, Dept Surg, Vancouver, BC V6H 3Z6, Canada
Crellin, Natasha K.
;
Amendola, Mario
论文数: 0引用数: 0
h-index: 0
机构:
HSR TIGET, Milan, ItalyUniv British Columbia, Dept Surg, Vancouver, BC V6H 3Z6, Canada
Amendola, Mario
;
Bacchetta, Rosa
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h-index: 0
机构:
HSR TIGET, Milan, ItalyUniv British Columbia, Dept Surg, Vancouver, BC V6H 3Z6, Canada
Bacchetta, Rosa
;
Naldini, Luigi
论文数: 0引用数: 0
h-index: 0
机构:
HSR TIGET, Milan, Italy
Vita Salute San Raffaele, Milan, ItalyUniv British Columbia, Dept Surg, Vancouver, BC V6H 3Z6, Canada
Naldini, Luigi
;
Roncarolo, Maria Grazia
论文数: 0引用数: 0
h-index: 0
机构:
HSR TIGET, Milan, Italy
Vita Salute San Raffaele, Milan, ItalyUniv British Columbia, Dept Surg, Vancouver, BC V6H 3Z6, Canada
Roncarolo, Maria Grazia
;
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Soudeyns, Hugo
;
Levings, Megan K.
论文数: 0引用数: 0
h-index: 0
机构:
Univ British Columbia, Dept Surg, Vancouver, BC V6H 3Z6, Canada
Vancouver Coastal Hlth Res Inst, Immun & Infect Res Ctr, Vancouver, BC, CanadaUniv British Columbia, Dept Surg, Vancouver, BC V6H 3Z6, Canada
机构:
Chongqing Med Univ, Childrens Hosp, Lab P2, Chongqing 400014, Peoples R China
Chongqing Med Univ, Childrens Hosp, Div Immunol & Nephrol, Chongqing 400014, Peoples R ChinaChongqing Med Univ, Childrens Hosp, Lab P2, Chongqing 400014, Peoples R China
An, Y-F.
;
Xu, F.
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机构:
Chongqing Med Univ, Childrens Hosp, ICU, Chongqing 400014, Peoples R ChinaChongqing Med Univ, Childrens Hosp, Lab P2, Chongqing 400014, Peoples R China
Xu, F.
;
Wang, M.
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h-index: 0
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Chongqing Med Univ, Childrens Hosp, Lab P2, Chongqing 400014, Peoples R ChinaChongqing Med Univ, Childrens Hosp, Lab P2, Chongqing 400014, Peoples R China
Wang, M.
;
Zhang, Z-Y.
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Chongqing Med Univ, Childrens Hosp, Div Immunol & Nephrol, Chongqing 400014, Peoples R ChinaChongqing Med Univ, Childrens Hosp, Lab P2, Chongqing 400014, Peoples R China
Zhang, Z-Y.
;
Zhao, X-D.
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Chongqing Med Univ, Childrens Hosp, Lab P2, Chongqing 400014, Peoples R China
Chongqing Med Univ, Childrens Hosp, Div Immunol & Nephrol, Chongqing 400014, Peoples R ChinaChongqing Med Univ, Childrens Hosp, Lab P2, Chongqing 400014, Peoples R China
机构:
Ctr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, FranceCtr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, France
Ayyoub, Maha
;
Deknuydt, Florence
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Ctr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, FranceCtr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, France
Deknuydt, Florence
;
Raimbaud, Isabelle
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Ctr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, FranceCtr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, France
Raimbaud, Isabelle
;
Dousset, Christelle
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h-index: 0
机构:
Ctr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, FranceCtr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, France
Dousset, Christelle
;
Leveque, Lucie
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机构:
Ctr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, FranceCtr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, France
Leveque, Lucie
;
Bioley, Gilles
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Ctr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, FranceCtr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, France
Bioley, Gilles
;
Valmori, Danila
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机构:
Ctr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, France
Univ Nantes, Fac Med, F-44093 Nantes, FranceCtr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, France
机构:Univ Ulsan, Coll Med, Childrens Hosp, Asan Med Ctr,Div Pediat Hematol Oncol,Dept Pediat, Seoul, South Korea
Bae, Keun Wook
;
Kim, Bo Eun
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h-index: 0
机构:Univ Ulsan, Coll Med, Childrens Hosp, Asan Med Ctr,Div Pediat Hematol Oncol,Dept Pediat, Seoul, South Korea
Kim, Bo Eun
;
Choi, Jin-Ho
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h-index: 0
机构:Univ Ulsan, Coll Med, Childrens Hosp, Asan Med Ctr,Div Pediat Hematol Oncol,Dept Pediat, Seoul, South Korea
Choi, Jin-Ho
;
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Lee, Joo Hoon
;
Park, Young Seo
论文数: 0引用数: 0
h-index: 0
机构:Univ Ulsan, Coll Med, Childrens Hosp, Asan Med Ctr,Div Pediat Hematol Oncol,Dept Pediat, Seoul, South Korea
Park, Young Seo
;
Kim, Gu-Hwan
论文数: 0引用数: 0
h-index: 0
机构:
Asan Med Ctr, Med Genet Clin & Lab, Seoul, South KoreaUniv Ulsan, Coll Med, Childrens Hosp, Asan Med Ctr,Div Pediat Hematol Oncol,Dept Pediat, Seoul, South Korea
Kim, Gu-Hwan
;
Yoo, Han Wook
论文数: 0引用数: 0
h-index: 0
机构:
Asan Med Ctr, Med Genet Clin & Lab, Seoul, South KoreaUniv Ulsan, Coll Med, Childrens Hosp, Asan Med Ctr,Div Pediat Hematol Oncol,Dept Pediat, Seoul, South Korea
Yoo, Han Wook
;
Seo, Jong Jin
论文数: 0引用数: 0
h-index: 0
机构:
Univ Ulsan, Coll Med, Childrens Hosp, Asan Med Ctr,Div Pediat Hematol Oncol,Dept Pediat, Seoul, South KoreaUniv Ulsan, Coll Med, Childrens Hosp, Asan Med Ctr,Div Pediat Hematol Oncol,Dept Pediat, Seoul, South Korea
机构:
Univ British Columbia, Dept Surg, Vancouver, BC V6H 3Z6, Canada
Vancouver Coastal Hlth Res Inst, Immun & Infect Res Ctr, Vancouver, BC, CanadaUniv British Columbia, Dept Surg, Vancouver, BC V6H 3Z6, Canada
Allan, Sarah E.
;
Alstad, Alicia N.
论文数: 0引用数: 0
h-index: 0
机构:
Univ British Columbia, Dept Surg, Vancouver, BC V6H 3Z6, Canada
Vancouver Coastal Hlth Res Inst, Immun & Infect Res Ctr, Vancouver, BC, CanadaUniv British Columbia, Dept Surg, Vancouver, BC V6H 3Z6, Canada
Alstad, Alicia N.
;
Merindol, Natacha
论文数: 0引用数: 0
h-index: 0
机构:
CHU St Justine, Ctr Rech, Unite Immunopathol Virale, Montreal, PQ, Canada
Univ Montreal, Fac Med, Dept Pediat, Montreal, PQ H3C 3J7, CanadaUniv British Columbia, Dept Surg, Vancouver, BC V6H 3Z6, Canada
Merindol, Natacha
;
Crellin, Natasha K.
论文数: 0引用数: 0
h-index: 0
机构:
Univ British Columbia, Dept Surg, Vancouver, BC V6H 3Z6, Canada
Vancouver Coastal Hlth Res Inst, Immun & Infect Res Ctr, Vancouver, BC, CanadaUniv British Columbia, Dept Surg, Vancouver, BC V6H 3Z6, Canada
Crellin, Natasha K.
;
Amendola, Mario
论文数: 0引用数: 0
h-index: 0
机构:
HSR TIGET, Milan, ItalyUniv British Columbia, Dept Surg, Vancouver, BC V6H 3Z6, Canada
Amendola, Mario
;
Bacchetta, Rosa
论文数: 0引用数: 0
h-index: 0
机构:
HSR TIGET, Milan, ItalyUniv British Columbia, Dept Surg, Vancouver, BC V6H 3Z6, Canada
Bacchetta, Rosa
;
Naldini, Luigi
论文数: 0引用数: 0
h-index: 0
机构:
HSR TIGET, Milan, Italy
Vita Salute San Raffaele, Milan, ItalyUniv British Columbia, Dept Surg, Vancouver, BC V6H 3Z6, Canada
Naldini, Luigi
;
Roncarolo, Maria Grazia
论文数: 0引用数: 0
h-index: 0
机构:
HSR TIGET, Milan, Italy
Vita Salute San Raffaele, Milan, ItalyUniv British Columbia, Dept Surg, Vancouver, BC V6H 3Z6, Canada
Roncarolo, Maria Grazia
;
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Soudeyns, Hugo
;
Levings, Megan K.
论文数: 0引用数: 0
h-index: 0
机构:
Univ British Columbia, Dept Surg, Vancouver, BC V6H 3Z6, Canada
Vancouver Coastal Hlth Res Inst, Immun & Infect Res Ctr, Vancouver, BC, CanadaUniv British Columbia, Dept Surg, Vancouver, BC V6H 3Z6, Canada
机构:
Chongqing Med Univ, Childrens Hosp, Lab P2, Chongqing 400014, Peoples R China
Chongqing Med Univ, Childrens Hosp, Div Immunol & Nephrol, Chongqing 400014, Peoples R ChinaChongqing Med Univ, Childrens Hosp, Lab P2, Chongqing 400014, Peoples R China
An, Y-F.
;
Xu, F.
论文数: 0引用数: 0
h-index: 0
机构:
Chongqing Med Univ, Childrens Hosp, ICU, Chongqing 400014, Peoples R ChinaChongqing Med Univ, Childrens Hosp, Lab P2, Chongqing 400014, Peoples R China
Xu, F.
;
Wang, M.
论文数: 0引用数: 0
h-index: 0
机构:
Chongqing Med Univ, Childrens Hosp, Lab P2, Chongqing 400014, Peoples R ChinaChongqing Med Univ, Childrens Hosp, Lab P2, Chongqing 400014, Peoples R China
Wang, M.
;
Zhang, Z-Y.
论文数: 0引用数: 0
h-index: 0
机构:
Chongqing Med Univ, Childrens Hosp, Div Immunol & Nephrol, Chongqing 400014, Peoples R ChinaChongqing Med Univ, Childrens Hosp, Lab P2, Chongqing 400014, Peoples R China
Zhang, Z-Y.
;
Zhao, X-D.
论文数: 0引用数: 0
h-index: 0
机构:
Chongqing Med Univ, Childrens Hosp, Lab P2, Chongqing 400014, Peoples R China
Chongqing Med Univ, Childrens Hosp, Div Immunol & Nephrol, Chongqing 400014, Peoples R ChinaChongqing Med Univ, Childrens Hosp, Lab P2, Chongqing 400014, Peoples R China
机构:
Ctr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, FranceCtr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, France
Ayyoub, Maha
;
Deknuydt, Florence
论文数: 0引用数: 0
h-index: 0
机构:
Ctr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, FranceCtr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, France
Deknuydt, Florence
;
Raimbaud, Isabelle
论文数: 0引用数: 0
h-index: 0
机构:
Ctr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, FranceCtr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, France
Raimbaud, Isabelle
;
Dousset, Christelle
论文数: 0引用数: 0
h-index: 0
机构:
Ctr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, FranceCtr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, France
Dousset, Christelle
;
Leveque, Lucie
论文数: 0引用数: 0
h-index: 0
机构:
Ctr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, FranceCtr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, France
Leveque, Lucie
;
Bioley, Gilles
论文数: 0引用数: 0
h-index: 0
机构:
Ctr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, FranceCtr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, France
Bioley, Gilles
;
Valmori, Danila
论文数: 0引用数: 0
h-index: 0
机构:
Ctr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, France
Univ Nantes, Fac Med, F-44093 Nantes, FranceCtr Rene Gauducheau, U892, INSERM, F-44800 St Herblain, France
机构:Univ Ulsan, Coll Med, Childrens Hosp, Asan Med Ctr,Div Pediat Hematol Oncol,Dept Pediat, Seoul, South Korea
Bae, Keun Wook
;
Kim, Bo Eun
论文数: 0引用数: 0
h-index: 0
机构:Univ Ulsan, Coll Med, Childrens Hosp, Asan Med Ctr,Div Pediat Hematol Oncol,Dept Pediat, Seoul, South Korea
Kim, Bo Eun
;
Choi, Jin-Ho
论文数: 0引用数: 0
h-index: 0
机构:Univ Ulsan, Coll Med, Childrens Hosp, Asan Med Ctr,Div Pediat Hematol Oncol,Dept Pediat, Seoul, South Korea
Choi, Jin-Ho
;
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机构:
Lee, Joo Hoon
;
Park, Young Seo
论文数: 0引用数: 0
h-index: 0
机构:Univ Ulsan, Coll Med, Childrens Hosp, Asan Med Ctr,Div Pediat Hematol Oncol,Dept Pediat, Seoul, South Korea
Park, Young Seo
;
Kim, Gu-Hwan
论文数: 0引用数: 0
h-index: 0
机构:
Asan Med Ctr, Med Genet Clin & Lab, Seoul, South KoreaUniv Ulsan, Coll Med, Childrens Hosp, Asan Med Ctr,Div Pediat Hematol Oncol,Dept Pediat, Seoul, South Korea
Kim, Gu-Hwan
;
Yoo, Han Wook
论文数: 0引用数: 0
h-index: 0
机构:
Asan Med Ctr, Med Genet Clin & Lab, Seoul, South KoreaUniv Ulsan, Coll Med, Childrens Hosp, Asan Med Ctr,Div Pediat Hematol Oncol,Dept Pediat, Seoul, South Korea
Yoo, Han Wook
;
Seo, Jong Jin
论文数: 0引用数: 0
h-index: 0
机构:
Univ Ulsan, Coll Med, Childrens Hosp, Asan Med Ctr,Div Pediat Hematol Oncol,Dept Pediat, Seoul, South KoreaUniv Ulsan, Coll Med, Childrens Hosp, Asan Med Ctr,Div Pediat Hematol Oncol,Dept Pediat, Seoul, South Korea