ArticleThe Journal of clinical investigation2019
FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans.
Article in The Journal of clinical investigation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
32 citing papers in PubMed, 45 citations in OpenAlex.
- Proteasome inhibition promotes Foxn1 expression in thymic epithelial cells and induces thymic regeneration in mice.Cell death and differentiation · 2026Article
- Editorial: Thymus biology: development, immunodeficiency and cancer progression.Frontiers in immunology · 2026Article
- Article
- Informed clinical decisions by outfoxing human FOXN1 variants.The Journal of allergy and clinical immunology · 2025Review
- Article
- Utilization of next-generation sequencing to define the role of heterozygousThe journal of allergy and clinical immunology. Global · 2024Article
- Peripheral T Cell Development and Immunophenotyping of Twins with Heterozygous FOXN1 Mutations.ImmunoHorizons · 2024Article
- Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia.Journal of clinical immunology · 2024Article
- Primary and secondary defects of the thymus.Immunological reviews · 2024Review
- Case report: Artificial thymic organoids facilitate clinical decisions for a patient with aFrontiers in immunology · 2024Article
- Comprehensive phenotypic analysis of diverse FOXN1 variants.The Journal of allergy and clinical immunology · 2023Article
- Generation and molecular characterization of human pluripotent stem cell-derived pharyngeal foregut endoderm.Developmental cell · 2023Article
- Human thymus in health and disease: Recent advances in diagnosis and biology.Seminars in immunology · 2023Review
- The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions.The Journal of allergy and clinical immunology · 2023Article
- FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia.The Journal of allergy and clinical immunology · 2022Article
- Mesenchymal cell replacement corrects thymic hypoplasia in murine models of 22q11.2 deletion syndrome.The Journal of clinical investigation · 2022Article
- Article
- Limits to in vivo fate changes of epithelia in thymus and parathyroid by ectopic expression of transcription factors Gcm2 and Foxn1.Scientific reports · 2022Article
- Inborn errors of immunity associated with defects of thymic development.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2022Review
- Transcriptional and epigenetic regulation in thymic epithelial cells.Immunological reviews · 2022Review
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 1 country.
Funding
Abstract
We report on 2 patients with compound heterozygous mutations in forkhead box N1 (FOXN1), a transcription factor essential for thymic epithelial cell (TEC) differentiation. TECs are critical for T cell development. Both patients had a presentation consistent with T-/loB+NK+ SCID, with normal hair and nails, distinct from the classic nude/SCID phenotype in individuals with autosomal-recessive FOXN1 mutations. To understand the basis of this phenotype and the effects of the mutations on FOXN1, we generated mice using CRISPR-Cas9 technology to genocopy mutations in 1 of the patients. The mice with the Foxn1 compound heterozygous mutations had thymic hypoplasia, causing a T-B+NK+ SCID phenotype, whereas the hair and nails of these mice were normal. Characterization of the functional changes due to the Foxn1 mutations revealed a 5-amino acid segment at the end of the DNA-binding domain essential for the development of TECs but not keratinocytes. The transcriptional activity of this Foxn1 mutant was partly retained, indicating a region that specifies TEC functions. Analysis of an additional 9 FOXN1 mutations identified in multiple unrelated patients revealed distinct functional consequences contingent on the impact of the mutation on the DNA-binding and transactivation domains of FOXN1.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.