Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis

    August 2019 in “ American journal of human genetics ”
    Marita Bosticardo, Yasuhiro Yamazaki, Jennifer E. Cowan, Giuliana Giardino, Cristina Corsino, Giulia Scalia, Rosaria Prencipe, Melanie A. Ruffner, David R.C. Hill, Inga Sakovich, Irma Yemialyanava, Jonathan S. Tam, Nurcicek Padem, Melissa E. Elder, John W. Sleasman, Elena Pérez, Hana Niebur, Christine M. Seroogy, Svetlana O. Sharapova, Jennifer Gebbia, Gary Kleiner, Jane Peake, Jordan K. Abbott, Erwin W. Gelfand, Elena Crestani, Catherine M. Biggs, Manish J. Butte, Nicholas Hartog, Anthony R. Hayward, Karin Chen, Jennifer Heimall, Filiz O. Seeborg, Lisa M. Bartnikas, Megan A. Cooper, Claudio Pignata, Avinash Bhandoola, Luigi D. Notarangelo
    Image of study
    TLDR FOXN1 gene variants cause low T cells and immune issues from birth.
    The study identified that heterozygous loss-of-function variants in the FOXN1 gene caused low levels of T cell receptor excision circles (TRECs) and severe T cell lymphopenia in newborns, often accompanied by nail dystrophy. Longitudinal analysis revealed persistent T cell lymphopenia during infancy and lower CD8+ cell counts in adults with these variants. The researchers hypothesized a gene dosage effect of FOXN1 on thymic epithelial cells (TECs) and thymopoiesis, which was more pronounced early in life. In Foxn1nu/+ mice, there was a significant reduction in early thymic progenitor (ETP) cells and delayed maturation of the medullary TEC compartment, along with reduced expression of FOXN1 target genes. These findings established that FOXN1 haploinsufficiency is a crucial genetic factor for T cell lymphopenia at birth.
    Discuss this study in the Community →

    Research cited in this study

    5 / 5 results

    Related Community Posts Join

    6 / 6 results

      community How does dutasteride regrowth work?

      in Finasteride/Dutasteride  6 upvotes 7 months ago
      A 25-year-old man with hair loss from bleach damage is using oral minoxidil and considering adding Dutasteride for better regrowth and prevention. He seeks advice on Dutasteride's effectiveness and potential benefits over finasteride, and is also curious about RU58841.

      community Fats on your Head to Stop Hair Loss?

      in Research/Science  142 upvotes 10 months ago
      The conversation discusses the potential of long-chain unsaturated fatty acids, like oleic and linoleic acid, as an additional treatment for hair loss, which may inhibit the enzyme responsible for converting testosterone to DHT and promote hair growth. Users humorously suggest using oils topically and discuss other hair loss treatments, but the main focus is on the science behind fatty acids and their role in hair health.

      community Massive hair gains! Hope! May this post be a light to you in dark phases when all other lights go out

      in Progress Pictures  193 upvotes 7 months ago
      A 27-year-old man saw significant hair regrowth after starting a regimen in January that included topical minoxidil with finasteride, vitamins D and B12, fish oil, zinc with magnesium, quitting smoking, and intermittent fasting. People commented on the effectiveness of minoxidil in Southern populations and asked about the details and timeline of his treatment.

      community Stop expecting results in 2 months!

      in Treatment  125 upvotes 7 months ago
      People discussing hair loss treatments emphasize the need for patience, as results from using finasteride and minoxidil can take 8-12 months or longer. Some users report early signs of improvement, while others experience continued shedding or slower progress.

      community Kintor Phase 2 Results released KX-826 (pyrilutamide)

      in Research/Science  451 upvotes 2 years ago
      Kintor Pharmaceutical's Phase 2 results with the drug Pyrilutamide, a potential alternative to 5-ARI drugs like Finasteride and Dutasteride but without the side effects. It could be used in combination with other topical treatments such as Minoxidil. The safety of the drug has been demonstrated in 6 months of use, however there are still questions about long term efficacy and systemic absorption.

    Similar Research

    5 / 647 results