Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.F324L
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FOXP3

NM_014009.4:p.F324L

Associated Papers

Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.

King J et al.

Cell Reports, 2025

41124077 (PubMed )
Supplement: NIHMS2125804-supplement-2.xlsx › TableS1B

Mutations from patients with IPEX ported to mice reveal different patterns of FoxP3 and Treg dysfunction.

Leon J et al.

Cell Reports, 2023

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.

Barzaghi F et al.

The Journal of Allergy and Clinical Immunology, 2018

FoxP3 scanning mutagenesis reveals functional variegation and mild mutations with atypical autoimmune phenotypes.

Kwon HK et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

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

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.

Komor AC et al.

Nature, 2016

27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf

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

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

Clinical and molecular characteristics of immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in China.

An YF et al.

Scandinavian Journal of Immunology, 2011

Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome.

Passerini L et al.

European Journal of Immunology, 2011

Point mutants of forkhead box P3 that cause immune dysregulation, polyendocrinopathy, enteropathy, X-linked have diverse abilities to reprogram T cells into regulatory T cells.

McMurchy AN et al.

The Journal of Allergy and Clinical Immunology, 2010

Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome.

Harbuz R et al.

Prenatal Diagnosis, 2010

Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.

Gambineri E et al.

The Journal of Allergy and Clinical Immunology, 2008

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

Bacchetta R et al.

The Journal of Clinical Investigation, 2006

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