ReviewJournal of clinical immunology2021
Congenital Athymia: Genetic Etiologies, Clinical Manifestations, Diagnosis, and Treatment.
Review in Journal of clinical immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05655000 (A First-in-Humans Supermicrosurgical Technique for the Neonatal Thymus Transplantation), which is not on this map. Cited by 26 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
A First-in-Humans Supermicrosurgical Technique for the Neonatal Thymus Transplantation
Who cites it
26 citing papers in PubMed, 2 syntheses or guidelines pooled it, 43 citations in OpenAlex.
- Thymus transplantation for DiGeorge Syndrome: a systematic review.Pediatric surgery international · 2025Pooled it
- Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency.The Journal of allergy and clinical immunology · 2022Pooled it
- Rebooting immunity in congenital athymia: Factors impacting reconstitution with thymus implantation.Journal of human immunity · 2026Article
- Article
- Thymic health consequences in adults.Nature · 2026Article
- Allogeneic Hematopoietic Cell Transplantation for Congenital Athymia: A Nationwide Retrospective Study in Japan.Journal of clinical immunology · 2026Article
- Atopic dermatitis in inborn errors of immunity: at the interface of immunodeficiency and immune dysregulation.Immunologic research · 2025Review
- Coexistence of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome and heterotaxy in a newborn with athymia.The journal of allergy and clinical immunology. Global · 2025Article
- Review of the Pathophysiology and Clinical Manifestations of 22q11.2 Deletion and Duplication Syndromes.Clinical reviews in allergy & immunology · 2025Review
- A Rare Case ofInternational journal of molecular sciences · 2024Article
- Case report: Artificial thymic organoids facilitate clinical decisions for a patient with aFrontiers in immunology · 2024Article
- Omenn syndrome in a 10-month-old male with athymia and VACTERL association.The journal of allergy and clinical immunology. Global · 2023Article
- Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients.Clinical immunology (Orlando, Fla.) · 2023Article
- Site-specific development and progressive maturation of human tissue-resident memory T cells over infancy and childhood.Immunity · 2023Article
- Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.International journal of molecular sciences · 2023Review
- Inborn errors of human transcription factors governing IFN-γ antimycobacterial immunity.Current opinion in immunology · 2023Review
- Organ-based clues for diagnosis of inborn errors of immunity: A practical guide for clinicians.Immunity, inflammation and disease · 2023Review
- Zebrafish: A Relevant Genetic Model for Human Primary Immunodeficiency (PID) Disorders?International journal of molecular sciences · 2023Review
- 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
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital athymia is an ultra-rare disease characterized by the absence of a functioning thymus. It is associated with several genetic and syndromic disorders including FOXN1 deficiency, 22q11.2 deletion, CHARGE Syndrome (Coloboma, Heart defects, Atresia of the nasal choanae, Retardation of growth and development, Genitourinary anomalies, and Ear anomalies), and Complete DiGeorge Syndrome. Congenital athymia can result from defects in genes that impact thymic organ development such as FOXN1 and PAX1 or from genes that are involved in development of the entire midline region, such as TBX1 within the 22q11.2 region, CHD7, and FOXI3. Patients with congenital athymia have profound immunodeficiency, increased susceptibility to infections, and frequently, autologous graft-versus-host disease (GVHD). Athymic patients often present with absent T cells but normal numbers of B cells and Natural Killer cells (T
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.