ArticleAmerican journal of human genetics2019
Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis.
Registry-linked trialOpen access · bronzeAbstract read
In one paragraph
Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 57 papers.
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57citing papers in PubMed
3.8field-weighted citation impact, top 6% of its field
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.
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Who cites it
57 citing papers in PubMed, 80 citations in OpenAlex.
- Second-tier genetics improves newborn screening accuracy for SCID and other T cell deficiencies.Journal of human immunity · 2026Article
- Human inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity.medRxiv : the preprint server for health sciences · 2026Article
- Abnormal immunoglobulin expression and B-cell follicle organization in inborn errors of immunity/primary immunodeficiency.Virchows Archiv : an international journal of pathology · 2026Article
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- Proteasome inhibition promotes Foxn1 expression in thymic epithelial cells and induces thymic regeneration in mice.Cell death and differentiation · 2026Article
- Managing non-SCID T cell lymphopenia after TREC-based newborn screening.Journal of human immunity · 2026Article
- First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.Frontiers in immunology · 2026Article
- Pitfalls and diagnostic challenges in TRECS-based newborn screening for Artemis, FOXN1 and Moesin deficiencies.Frontiers in immunology · 2026Article
- Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.Cell reports · 2025Article
- Article
- Informed clinical decisions by outfoxing human FOXN1 variants.The Journal of allergy and clinical immunology · 2025Review
- Aqueous Dispersion of Unmodified Fullerene C60: Stimulation of Hair Growth and Study of a New Molecular Target for Interaction.International journal of molecular sciences · 2025Article
- 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
- Endogenous thymic regeneration: restoring T cell production following injury.Nature reviews. Immunology · 2025Review
- Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.bioRxiv : the preprint server for biology · 2025Article
- Thymic inborn errors of immunity.The Journal of allergy and clinical immunology · 2025Review
- Thymus Ontogeny and Development.Advances in experimental medicine and biology · 2025Review
- 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
Corrections and comments
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Authors and funding
37 authors at 20 institutions in 5 countries.
Marita BosticardoLaboratory of Clinical Immunology and Microbiology, IDGS, DIR, NIAID, NIH, Bethesda, MD 20892, USA.
Yasuhiro YamazakiLaboratory of Clinical Immunology and Microbiology, IDGS, DIR, NIAID, NIH, Bethesda, MD 20892, USA.
Jennifer CowanLaboratory of Genome Integrity, CCR, NCI, NIH, Bethesda, MD 20892, USA.
Giuliana GiardinoDepartment of Translational Medical Sciences Federico II University, Naples 80138, Italy.
Cristina CorsinoLaboratory of Clinical Immunology and Microbiology, IDGS, DIR, NIAID, NIH, Bethesda, MD 20892, USA.
Giulia ScaliaLaboratory of Clinical research and Advanced Diagnostics, CEINGE Biotecnologie Avanzate, Naples 80131, Italy.
Rosaria PrencipeDepartment of Translational Medical Sciences Federico II University, Naples 80138, Italy.
Melanie RuffnerDivision of Allergy and Immunology, Department of Pediatrics, Children's Hospital Philadelphia, Philadelphia, PA 19104, USA.
David A HillDivision of Allergy and Immunology, Department of Pediatrics, Children's Hospital Philadelphia, Philadelphia, PA 19104, USA.
Inga SakovichImmunology Lab, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk 223053, Belarus.
Irma YemialyanavaImmunology Lab, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk 223053, Belarus.
Jonathan S TamDivision of Clinical Immunology and Allergy, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
Nurcicek PademDivision of Allergy and Immunology, Lurie Children's Hospital, Chicago, IL 60611, USA.
Melissa E ElderDivision of Allergy, Immunology and Rheumatology, Department of Pediatrics, University of Florida, Gainesville, FL 32610, USA.
John W SleasmanDivision of Allergy, Immunology and Pulmonary Medicine, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27705, USA.
Elena PerezAllergy Associates of the Palm Beaches, North Palm Beach, FL 33408, USA.
Hana NieburDivision of Pediatric Allergy and Immunology, University of Nebraska Medical Center, Omaha, NE 68198, USA.
Christine M SeroogyDivision of Allergy, Immunology and Rheumatology, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI 53792, USA.
Svetlana SharapovaImmunology Lab, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk 223053, Belarus.
Jennifer GebbiaDepartment of Pediatric Allergy and Immunology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Gary Ira KleinerDepartment of Pediatric Allergy and Immunology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Jane PeakeDivision of Paediatric Immunology and Allergy, Lady Cilento Children's Hospital, University of Queensland School of Medicine, South Brisbane, QLD 4101, Australia.
Jordan K AbbottImmunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, CO 80206, USA.
Erwin W GelfandImmunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, CO 80206, USA.
Elena CrestaniDivision of Immunology, Boston Children's Hospital, Boston, MA 02115, USA.
Catherine BiggsDivision of Immunology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, BC V6H 0B3, Canada.
Manish J ButteDivision of Allergy, Immunology and Rheumatology, University of California at Los Angeles, Los Angeles, CA 90095, USA.
Nicholas HartogSpectrum Health Allergy and Immunology, Grand Rapids, MI 49525, USA.
Anthony HaywardDivision of Allergy and Immunology, Department of Pediatrics, Brown University and Rhode Island Hospital, Providence, RI 02905, USA.
Karin ChenDivision of Allergy and Immunology, Department of Pediatrics, University of Utah, Salt Lake City, UT 84112, USA.
Jennifer HeimallDivision of Allergy and Immunology, Department of Pediatrics, Children's Hospital Philadelphia, Philadelphia, PA 19104, USA.
Filiz SeeborgSection of Allergy, Immunology and Rheumatology & Center for Human Immunobiology, Department of Pediatrics, Texas Children's Hospital, Houston, TX 77030, USA.
Lisa M BartnikasDivision of Immunology, Boston Children's Hospital, Boston, MA 02115, USA.
Megan A CooperDepartment of Pediatrics, Division of Rheumatology, Washington University in St. Louis, MO 63110, USA.
Claudio PignataDepartment of Translational Medical Sciences Federico II University, Naples 80138, Italy.
Avinash BhandoolaLaboratory of Genome Integrity, CCR, NCI, NIH, Bethesda, MD 20892, USA.
Luigi D NotarangeloLaboratory of Clinical Immunology and Microbiology, IDGS, DIR, NIAID, NIH, Bethesda, MD 20892, USA. Electronic address: luigi.notarangelo2@nih.gov.
National Institutes of Health · USBelarusian Research Center For Pediatric Oncology and Hematology · BYBoston Children's Hospital · USChildren's Hospital of Philadelphia · USFederico II University Hospital · ITNational Human Genome Research Institute · USNational Jewish Health · USUniversity of Miami · USAllergy Associates of the Palm Beaches · USCeinge Biotecnologie Avanzate (Italy) · ITChildren's Hospital of Los Angeles · USDuke University · USLurie Children's Hospital · USQueensland Children’s Hospital · AURhode Island Hospital · USSpectrum Health · USTexas Children's Hospital · USUniversity of California, Los Angeles · USUniversity of Florida · USUniversity of Nebraska Medical Center · US
Funding
Tracking and Evaluation CoreU54GM115677 · NIGMS · BROWN UNIVERSITY · PI KOGUT, STEPHEN J · 2016 to 2025
$45.0MThe role of unique adipose tissue macrophage populations in obesityK08DK116668 · NIDDK · CHILDREN'S HOSP OF PHILADELPHIA · PI HILL, DAVID ANDREW · 2018 to 2022
$770kNIDDK NIH HHS K08 DK116668NIGMS NIH HHS U54 GM115677
Abstract
FOXN1 is the master regulatory gene of thymic epithelium development. FOXN1 deficiency leads to thymic aplasia, alopecia, and nail dystrophy, accounting for the nude/severe combined immunodeficiency (nu/SCID) phenotype in humans and mice. We identified several newborns with low levels of T cell receptor excision circles (TRECs) and T cell lymphopenia at birth, who carried heterozygous loss-of-function FOXN1 variants. Longitudinal analysis showed persistent T cell lymphopenia during infancy, often associated with nail dystrophy. Adult individuals with heterozygous FOXN1 variants had in most cases normal CD4
Indexed as
HeterozygoteAdultAgedAnimalsChild, PreschoolFemaleForkhead Transcription FactorsHumansInfantInfant, NewbornLymphopeniaMaleMiceMice, SCIDMiddle AgedThymus GlandForkhead Transcription FactorsWhn proteinFOXN1newborn screeningSCIDT cell receptor excision circlesthymopoiesisthymusT lymphocytes
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Registered trials
NCT02450851ClinicalTrials.gov
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.