3 citations
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May 2019 in “BMJ case reports” This report describes a rare case of severe combined immunodeficiency caused by a FOXN1 gene variant, complicated by Epstein-Barr virus infection and high-grade B-cell lymphoma, leading to the infant's death despite treatment efforts.
November 2020 in “International journal of contemporary pediatrics” This study reports two siblings with severe combined immunodeficiency due to a mutation in the FOXN1 gene, characterized by T-cell immunodeficiency, alopecia totalis, and nail dystrophy.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.
April 2026 in “Laboratory Animal Research” This study developed a novel Hairless Rag2/Jak3 KO mouse model, which provides superior optical properties and thinner skin compared to existing models, enhancing its utility for noninvasive tumor monitoring and evaluation of anticancer therapies.
98 citations
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March 2019 in “Frontiers in immunology” This study concluded that heterozygous NFKB2 mutations lead to a distinct and severe form of primary immunodeficiency with early onset, primarily T cell-mediated autoimmunity, and impaired B-cell differentiation.
