Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.F373V
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FOXP3

NM_014009.4:p.F373V

Associated Papers

The immunological and genetic basis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Bin Dhuban K et al.

Current Opinion in Allergy and Clinical Immunology, 2015

Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease.

Okou DT et al.

Journal of Pediatric Gastroenterology and Nutrition, 2014

Selective expansion of donor-derived regulatory T cells after allogeneic bone marrow transplantation in a patient with IPEX syndrome.

Horino S et al.

Pediatric Transplantation, 2014

FOXP3: genetic and epigenetic implications for autoimmunity.

Katoh H et al.

Journal of Autoimmunity, 2013

The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.

d'Hennezel E et al.

Journal of Medical Genetics, 2012

Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity.

Barzaghi F et al.

Frontiers in Immunology, 2012

Autoantibodies to villin occur frequently in IPEX, a severe immune dysregulation, syndrome caused by mutation of FOXP3.

Kobayashi I et al.

Clinical Immunology (orlando, Fla.), 2011

Identification of FOXP3-negative regulatory T-like (CD4(+)CD25(+)CD127(low)) cells in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Otsubo K et al.

Clinical Immunology (orlando, Fla.), 2011

[IPEX syndrome and human Treg cells].

Otsubo K et al.

Nihon Rinsho Men'eki Gakkai Kaishi = Japanese Journal of Clinical Immunology, 2010

Developmental changes of FOXP3-expressing CD4+CD25+ regulatory T cells and their impairment in patients with FOXP3 gene mutations.

Fuchizawa T et al.

Clinical Immunology (orlando, Fla.), 2007

Low-dose cyclosporine A in a patient with X-linked immune dysregulation, polyendocrinopathy and enteropathy.

Tanaka H et al.

European Journal of Pediatrics, 2005

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Tanaka H et al.

Acta Paediatrica (oslo, Norway : 1992), 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."