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

    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
    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.
    Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
    Discuss this study in the Community →