Compound Heterozygous Mutations in Forkhead Box N1 (FOXN1) Lead to Severe Immunodeficiency but Normal Hair and Nail Development in Patients

    May 2018 in “ ˜The œjournal of immunology/˜The œJournal of immunology ”
    Nicolai S. van Oers, Shaheen N. Khan, Larry K. Hunyh, Qiumei Du, Grace T. Padron, Erika Molina, Igor Dozmorov, M. Louise Markert, M. Teresa de la Morena
    TLDR Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.
    The study reported on three patients with compound heterozygous mutations in the Forkhead Box N1 (FOXN1) gene, who exhibited severe T-cell lymphopenia but had normal hair and nail development, which is atypical compared to classic cases of FOXN1 mutations. Transcriptional reporter assays and protein expression studies revealed that only one of the mutations affected the transcriptional activity of murine Foxn1, producing a truncated protein. CRISPR/Cas9 technology was used to create mouse models with similar mutations to further investigate their impact on T cell development. The findings suggested potential new therapeutic strategies for restoring thymopoiesis in various clinical settings.
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