research FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis 17 citations , June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations 62 citations , January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
research Human FOXN1-Deficiency Is Associated with αβ Double-Negative and FoxP3+ T-Cell Expansions That Are Distinctly Modulated upon Thymic Transplantation 32 citations , May 2012 in “PloS one” Thymic transplantation normalized some T-cells but not others, maintaining immune function.
research Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations 30 citations , January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.