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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Broadening the Phenotypic Spectrum of Forkhead Box N1 Gene Mutations
James Brader1, Rachael O'Brien2, Clare Rees3
1Internal Medicine, Frimley Park Hospital, Frimley, GBR.
Cureus
|November 13, 2025
Summary
Previously healthy individuals with heterozygous FOXN1 mutations may develop immune dysfunction later in life. This case highlights potential risks associated with FOXN1 gene variants and warrants further investigation into their clinical significance.
Area of Science:
- Genetics and Immunology
- Molecular Biology
- Clinical Medicine
Background:
- Immune dysfunction can manifest with recurrent infections, chronic diarrhoea, and other symptoms.
- The FOXN1 gene is crucial for T-cell development and immune system function.
- Heterozygous mutations in FOXN1 are not typically associated with severe immune phenotypes in adults.
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