Concepedia

Foxp3 Mutations

FOXP3 Mutations is a genetic alteration in the FOXP3 gene, a critical transcription factor gene essential for the development and function of regulatory T cells, that disrupts immune tolerance and leads to autoimmune dysregulation due to impaired regulatory T cell activity.

193

Publications

17.2K

Citations

1.4K

Authors

482

Institutions

Publications per year

2017–2026

58

Parents

Publications

193

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

Craig L. Bennett, Jacinda R. Christie, Fred Ramsdell et al. · Nature Genetics · 2001 · 3.4K citations

, , +13

Instability of the transcription factor Foxp3 leads to the generation of pathogenic memory T cells in vivo

Xuyu Zhou, Samantha L. Bailey-Bucktrout, Lukas T. Jeker et al. · Nature Immunology · 2009 · 1.3K citations · Full text

, , +14

Selective depletion of Foxp3+ regulatory T cells induces a scurfy-like disease

Katharina Lahl, Christoph Loddenkemper, Cathy E. Drouin et al. · The Journal of Experimental Medicine · 2007 · 908 citations · Full text

, , +17

Regulatory T cells and Foxp3

Immunological Reviews · 2011 · 754 citations

, , +17

Defective regulatory and effector T cell functions in patients with FOXP3 mutations

Rosa Bacchetta · Journal of Clinical Investigation · 2006 · 514 citations · Full text

, , +17

1–5 of 193

Authors

1.4K

  1. RB
    Rosa Bacchetta

    The San Raffaele Telethon Institute for Gene Therapy, Italy

    11 publications · 1.4K citations

    11

    h-index

  2. PZ
    Pan Zheng

    University of Michigan, United States

    9 publications · 1.1K citations

    9

    h-index

  3. CB
    Christophe Benoıst

    Harvard University, United States

    7 publications · 658 citations

    7

    h-index

  4. DM
    Diane Mathis

    Harvard University, United States

    7 publications · 656 citations

    7

    h-index

  5. YL
    Yang Liu

    The Ohio State University, United States

    7 publications · 941 citations

    7

    h-index

1–5 of 1.4K

Institutions

482

  1. University of Washington

    Seattle, United States

    12 h-index

    33 publications

    15.8K citations

  2. The San Raffaele Telethon Institute for Gene Therapy

    Milan, Italy

    9 h-index

    27 publications

    3.5K citations

  3. Harvard University

    Cambridge, United States

    9 h-index

    58 publications

    4K citations

  4. Inserm

    Paris, France

    9 h-index

    57 publications

    4.8K citations

  5. University of Michigan

    Ann Arbor, United States

    9 h-index

    32 publications

    6.2K citations

  6. Stanford University

    Stanford, United States

    7 h-index

    53 publications

    3.1K citations

  7. Université Paris Cité

    Paris, France

    7 h-index

    49 publications

    4.7K citations

  8. Vita-Salute San Raffaele University

    Milan, Italy

    6 h-index

    10 publications

    1.1K citations

1–8 of 482

Venues

  1. The Journal of Immunology

    JI · 9 publications · 618 citations

    9

    h-index

  2. The Journal of Experimental Medicine

    8 publications · 1.7K citations

    8

    h-index

  3. PubMed

    Repository · 6 publications · 242 citations

    6

    h-index

  4. Clinical Immunology

    6 publications · 207 citations

    6

    h-index

  5. Frontiers in Immunology

    6 publications · 505 citations

    6

    h-index

1–5