Associated Papers
Adulthood outcomes of thymic transplantation in a case of congenital athymia due to FOXN1 mutation.
Paulo-Pedro M et al.
The Journal of Allergy and Clinical Immunology, 2025
Thymic inborn errors of immunity.
Pala F 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 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 Italian founder mutation in Indian family: Implications in prenatal diagnosis.
Radha Rama Devi A et al.
Gene, 2017
FOXN1 deficient nude severe combined immunodeficiency.
Rota IA et al.
Orphanet Journal of Rare Diseases, 2017
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
Recurrent anencephaly: a case report and examination of the VANGL1 and FOXN1 genes.
Sergi C et al.
Fetal and Pediatric Pathology, 2013
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
FOXN1 mutation abrogates prenatal T-cell development in humans.
Vigliano I et al.
Journal of Medical Genetics, 2011
First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases.
Markert ML et al.
Blood, 2011
Brain alteration in a Nude/SCID fetus carrying FOXN1 homozygous mutation.
Amorosi S et al.
Journal of the Neurological Sciences, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Human clinical phenotype associated with FOXN1 mutations.
Pignata C et al.
Advances in Experimental Medicine and Biology, 2009
Syndromes, disorders and maternal risk factors associated with neural tube defects (VI).
Chen CP
Taiwanese Journal of Obstetrics & Gynecology, 2008
FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus.
Amorosi S et al.
Clinical Genetics, 2008
Phospholipase C-delta1 is an essential molecule downstream of Foxn1, the gene responsible for the nude mutation, in normal hair development.
Nakamura Y et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2008
Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population.
Adriani M et al.
Annals of Human Genetics, 2004
A lesson for unraveling complex aspects of novel immunodeficiencies from the human equivalent of the nude/SCID phenotype.
Pignata C
Journal of Hematotherapy & Stem Cell Research, 2002