Varaico: Literature-Extracted Genetic Variants

Gene:FOXN1
Variant:p.R320W
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FOXN1

NM_001369369.1:p.R320W

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

Informed clinical decisions by outfoxing human FOXN1 variants.

Wysocki CA et al.

The Journal of Allergy and Clinical Immunology, 2025

Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.

Pasternak Y et al.

The Journal of Allergy and Clinical Immunology. Global, 2024

Comprehensive phenotypic analysis of diverse FOXN1 variants.

Moses A et al.

The Journal of Allergy and Clinical Immunology, 2023

FOXN1 Gene Considerations in Severe Combined Immunodeficiency Treatment in Children.

Torres S et al.

Cureus, 2022

FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency.

Rota IA et al.

Science Advances, 2021

Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations.

Giardino G et al.

Journal of Clinical Immunology, 2021

Inborn errors of thymic stromal cell development and function.

Kreins AY et al.

Seminars in Immunopathology, 2021

FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans.

Du Q et al.

The Journal of Clinical Investigation, 2019

Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis.

Bosticardo M et al.

American Journal of Human Genetics, 2019

Epstein-Barr virus associated with high-grade B-cell lymphoma in nude severe combined immunodeficiency.

Albar R et al.

Bmj Case Reports, 2019

A Novel FOXN1 Variant Is Identified in Two Siblings with Nude Severe Combined Immunodeficiency.

Firtina S et al.

Journal of Clinical Immunology, 2019

FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches.

Gallo V et al.

Journal of Clinical Immunology, 2017

FOXN1 deficient nude severe combined immunodeficiency.

Rota IA et al.

Orphanet Journal of Rare Diseases, 2017

Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

Yu H et al.

The Journal of Allergy and Clinical Immunology, 2016

Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies.

D'Assante R et al.

International Reviews of Immunology, 2016

Severe combined immunodeficiency--an update.

Cirillo E et al.

Annals of the New York Academy of Sciences, 2015

A novel mutation in FOXN1 resulting in SCID: a case report and literature review.

Chou J et al.

Clinical Immunology (orlando, Fla.), 2014

FOXN1 in organ development and human diseases.

Palamaro L et al.

International Reviews of Immunology, 2014

FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program.

Romano R et al.

Frontiers in Immunology, 2013

[Post-thymus transplant vitiligo in a child with Foxn1 deficiency].

Levy E et al.

Annales De Dermatologie Et De Venereologie, 2012

Human FOXN1-deficiency is associated with αβ double-negative and FoxP3+ T-cell expansions that are distinctly modulated upon thymic transplantation.

Albuquerque AS et al.

Plos One, 2012

First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases.

Markert ML et al.

Blood, 2011

[Immunodeficiency, Wiskott-Aldrich type].

Kim KC

Ryoikibetsu Shokogun Shirizu, 2001

Dental treatment of children with severe combined immunodeficiency.

Moyer IN et al.

Pediatric Dentistry, 1983

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