Alymphoid Cystic Thymic Dysgenesis - FOXN1 Gene Mutation: A Rare Case Report of Two Siblings

    November 2020 in “ International journal of contemporary pediatrics ”
    Abdus Subhan Sohail, Vidya Krishnamurthy, Hareesh Sanikam, Pushpalatha Kariyappa, Udayakumar Seetharam Rao
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    TLDR Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
    Alymphoid cystic thymic dysgenesis, a severe combined immunodeficiency syndrome caused by a mutation in the FOXN1 gene, was reported in two siblings from a non-consanguineous family. Both children exhibited symptoms of alopecia totalis, nail dystrophy, and failure to thrive. The first child, a 7-month-old female, had a history of respiratory infections, lymphadenopathy, and hepatosplenomegaly, with tests confirming T-cell and B-cell immunodeficiency and a recessive missense mutation in the FOXN1 gene. The second child, a 3-month-old, showed similar symptoms and low lymphocyte counts, but genetic analysis was not performed due to parental refusal. The study highlighted the rarity of the disorder and the need for further research to establish the clinical significance of the identified mutation.
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