Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.P431_*432delFs
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FOXP3

NM_014009.4:p.P431_*432delFs

Associated Papers

Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome.

Gambineri E et al.

Frontiers in Immunology, 2018

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

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 new FOXP3 mutations and prenatal diagnosis of IPEX syndrome.

Harbuz R et al.

Prenatal Diagnosis, 2010

FOXP3 acts as a rheostat of the immune response.

Ochs HD et al.

Immunological Reviews, 2005

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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."