ReviewOrphanet journal of rare diseases2017
FOXN1 deficient nude severe combined immunodeficiency.
Review in Orphanet journal of rare diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
23 citing papers in PubMed, 44 citations in OpenAlex.
- Cutaneous Manifestations of Inborn Errors of Immunity: Clinical Clues to Immune Disorders.Medicina (Kaunas, Lithuania) · 2026Review
- Rheumatologic and Autoimmune Features of Inborn Errors of Immunity: Implications for Diagnosis and Management.Journal of human immunity · 2025Article
- A human NK cell progenitor that originates in the thymus and generates KIRScience advances · 2025Article
- Effect of immunosuppression on hESC-derived retina organoids in vitro and in vivo.Stem cell research & therapy · 2025Article
- Dual prophylactic and therapeutic potential of iPSC-based vaccines and neoantigen discovery in colorectal cancer.Theranostics · 2025Article
- Topoisomerase 1 is required for the development and function of thymus.Journal of immunology (Baltimore, Md. : 1950) · 2025Article
- Peripheral T Cell Development and Immunophenotyping of Twins with Heterozygous FOXN1 Mutations.ImmunoHorizons · 2024Article
- The Male Reproductive Toxicity Caused by 2-Naphthylamine Was Related to Testicular Immunity Disorders.Toxics · 2024Article
- Primary and secondary defects of the thymus.Immunological reviews · 2024Review
- Interferon autoantibodies as signals of a sick thymus.Frontiers in immunology · 2024Review
- FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency.Science advances · 2021Article
- Defining the Clinical, Emotional, Social, and Financial Burden of Congenital Athymia.Advances in therapy · 2021Article
- Congenital Athymia: Genetic Etiologies, Clinical Manifestations, Diagnosis, and Treatment.Journal of clinical immunology · 2021Review
- Development of the Nude Rabbit Model.Stem cell reports · 2021Article
- Modeling by disruption and a selected-for partner for the nude locus.EMBO reports · 2021Article
- Inborn errors of thymic stromal cell development and function.Seminars in immunopathology · 2021Review
- Loss of natural resistance to schistosome in T cell deficient rat.PLoS neglected tropical diseases · 2020Article
- Pleiotropic Functions ofInternational journal of molecular sciences · 2020Article
- Human inborn errors of immunity to infection affecting cells other than leukocytes: from the immune system to the whole organism.Current opinion in immunology · 2019Review
- Epstein-Barr virus associated with high-grade B-cell lymphoma in nude severe combined immunodeficiency.BMJ case reports · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Nude severe combined immunodeficiency is a rare inherited disease caused by autosomal recessive loss-of-function mutations in FOXN1. This gene encodes a transcription factor essential for the development of the thymus, the primary lymphoid organ that supports T-cell development and selection. To date nine cases have been reported presenting with the clinical triad of absent thymus resulting in severe T-cell immunodeficiency, congenital alopecia universalis and nail dystrophy. Diagnosis relies on testing for FOXN1 mutations, which allows genetic counselling and guides therapeutic management. Options for treating the underlying immune deficiency include HLA-matched genoidentical haematopoietic cell transplantation containing mature donor T-cells or thymus tissue transplantation. Experience from other severe combined immune deficiency syndromes suggests that early diagnosis, supportive care and definitive management result in better patient outcomes. Without these the prognosis is poor due to early-onset life threatening infections.
Indexed as
Identifiers
What OpenQuestion holds
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.