First Use of Thymus Transplantation Therapy for FOXN1 Deficiency (Nude/SCID): A Report of 2 Cases

    January 2011 in “ Blood ”
    M. Louise Markert, José Gonçalo Marques, Bénédicte Neven, Blythe H. Devlin, Elizabeth McCarthy, Iván K. Chinn, Adriana S. Albuquerque, Susana L. Silva, Claudio Pignata, Geneviève de Saint Basile, Rui M. M. Victorino, Capucine Pïcard, Marianne Debré, Nizar Mahlaoui, Alain Fischer, Ana E. Sousa
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    TLDR Thymus transplantation successfully restored immune function in infants with FOXN1 deficiency.
    This study reported the first use of thymus transplantation therapy for FOXN1 deficiency in two infants, aged 14 and 9 months, who suffered from severe immunodeficiency, infections, and lack of T cells. Post-transplantation, both subjects developed functional immunity with significant increases in CD3+ and CD4+ T cells, resolving pre-existing conditions. One subject developed autoimmune thyroid disease 1.6 years post-transplant. The study concluded that thymus transplantation led to successful T-cell reconstitution and function, offering long-term clinical benefits for patients with FOXN1 deficiency.
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