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    Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations

    January 2021 in “ Journal of Clinical Immunology ”
    Giuliana Giardino, Svetlana Sharapova, Peter Čižnár … Claudio Pignata
    Studysummary This study describes various clinical phenotypes associated with FOXN1 mutations, finding that affected individuals may develop different severities of immunodeficiency based on their genetic mutations.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
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    Research cited in this study 8

    1. Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis American journal of human genetics · 2019
    2. Identification of an Intronic Regulatory Element Necessary for Tissue-Specific Expression of Foxn1 in Thymic Epithelial Cells ˜The œjournal of immunology/˜The œJournal of immunology · 2019
    3. Epstein-Barr Virus Associated with High-Grade B-Cell Lymphoma in Severe Combined Immunodeficiency BMJ case reports · 2019
    4. FOXN1 Deficiency: From the Discovery to Novel Therapeutic Approaches Journal of clinical immunology · 2017
    5. FOXN1 Italian Founder Mutation in Indian Family: Implications in Prenatal Diagnosis Gene · 2017
    6. FOXN1 Deficient Nude Severe Combined Immunodeficiency Orphanet journal of rare diseases · 2017
    7. 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
    8. First Use of Thymus Transplantation Therapy for FOXN1 Deficiency (Nude/SCID): A Report of 2 Cases Blood · 2011