Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.V272_A273Splc
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FOXP3

NM_014009.4:p.V272_A273Splc

Associated Papers

Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from Turkey.

Bekis Bozkurt H et al.

Journal of Clinical Immunology, 2024

A Case Report of IPEX Syndrome with Neonatal Diabetes Mellitus and Congenital Hypothyroidism as the Initial Presentation, and a Systematic Review of neonatal IPEX.

Hou AN et al.

Journal of Clinical Immunology, 2023

Autoimmune hepatitis in genetic syndromes: A literature review.

Capra AP et al.

World Journal of Hepatology, 2021

Atypical Presentations of IPEX: Expect the Unexpected.

Consonni F et al.

Frontiers in Pediatrics, 2021

IPEX as a Consequence of Alternatively Spliced FOXP3.

Mailer RK

Frontiers in Pediatrics, 2020

Clinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study.

Duclaux-Loras R et al.

Clinical and Translational Gastroenterology, 2018

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

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

Human Embryonic Stem Cell Lines with Lesions in FOXP3 and NF1.

Zhu H et al.

Plos One, 2016

Clinical heterogeneity of immunodysregulation, polyendocrinopathy, enteropathy, X-linked: pulmonary involvement as a non-classical disease manifestation.

Baris S et al.

Journal of Clinical Immunology, 2014

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

Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.

Nademi Z et al.

Bone Marrow Transplantation, 2014

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 new FOXP3 mutations and prenatal diagnosis of IPEX syndrome.

Harbuz R et al.

Prenatal Diagnosis, 2010

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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."