Compound Heterozygous Mutations in Forkhead Box N1 (FOXN1) Lead to Severe Immunodeficiency but Normal Hair and Nail Development in Patients
May 2018
in “
The journal of immunology/The Journal of immunology
”
Studysummary This study identified that patients with compound heterozygous mutations in FOXN1 exhibited severe T-cell lymphopenia but retained normal hair and nail development, indicating a distinct clinical phenotype from classic FOXN1 cases.
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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.
