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 … Luigi D. Notarangelo
    Studysummary This study found that FOXN1 haploinsufficiency is a significant genetic factor causing T cell lymphopenia at birth, linked to reduced thymic function in both humans and mice.
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    Research cited in this study 5

    1. FOXN1 Deficiency: From the Discovery to Novel Therapeutic Approaches Journal of clinical immunology · 2017
    2. FOXN1 Italian Founder Mutation in Indian Family: Implications in Prenatal Diagnosis Gene · 2017
    3. Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies International reviews of immunology · 2015
    4. Human FOXN1 Deficiency Is Associated with Alpha Beta Double-Negative and FoxP3 Positive T-Cell Expansions That Are Distinctly Modulated upon Thymic Transplantation PloS one · 2012
    5. First Use of Thymus Transplantation Therapy for FOXN1 Deficiency (Nude/SCID): A Report of 2 Cases Blood · 2011