Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.Q245_L246Splc
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FOXP3

NM_014009.4:p.Q245_L246Splc

Associated Papers

Sirolimus alleviated intractable diarrhea of IPEX syndrome: a case report and literature review.

Ye L et al.

Bmc Pediatrics, 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

Treatment with rapamycin can restore regulatory T-cell function in IPEX patients.

Passerini L et al.

The Journal of Allergy and Clinical Immunology, 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

Neonatal diabetes in a patient with IPEX syndrome: an attempt at balancing insulin therapy.

Romano F et al.

Acta Diabetologica, 2017

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

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

A potential screening tool for IPEX syndrome.

Heltzer ML et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

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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."