Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.R386H
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FOXP3

NM_014009.4:p.R386H

Associated Papers

IPEX syndrome from diagnosis to cure, learning along the way.

Bacchetta R et al.

The Journal of Allergy and Clinical Immunology, 2024

Autoimmune hepatitis in genetic syndromes: A literature review.

Capra AP et al.

World Journal of Hepatology, 2021

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

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

Nademi Z et al.

Bone Marrow 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

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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."