Skip to main content
SpringerLink
Log in

Winged Helix Deficiency (FOXN1)

  • Living reference work entry
  • First Online:
Encyclopedia of Medical Immunology

  • 133 Accesses

Synonyms

Alymphoid cystic thymic dysgenesis; FOXN1 deficiency; Nude SCID; Severe T cell immunodeficiency, congenital alopecia, nail dystrophy syndrome; Winged helix deficiency

Introduction/Background

FOXN1 encodes a transcription factor that is essential for the development of thymus and eccrine glands (Bonilla and Notarangelo 2015). This gene is a member of the forkhead gene family, which consists of a group of “winged helix” transcription factors that are involved in many aspects of cell development, metabolism, and aging (Palamaro et al. 2014). In fetal life, FOXN1 is expressed in mesenchymal and epithelial cells in the liver, lung, intestine, kidney, and urinary tract (Gallo et al. 2017). Postnatally, the gene is selectively expressed in thymic and skin epithelial cells (Palamaro et al. 2014).

The thymus is a primary lymphoid organ responsible for production of a diverse repertoire of immunocompetent T cells. FOXN1 is expressed in all thymic epithelial cells, which secrete...

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution

Institutional subscriptions

References

  • Bonilla F, Notarangelo L. Nathan and Oski’s hematology and oncology of infancy and childhood. 8th ed. Philadelphia: Elsevier; 2015.

    Google Scholar 

  • Gallo V, Cirillo E, Giardino G, Pignata C. FOXN1 deficiency: from the discovery to novel therapeutic approaches. J Clin Immunol. 2017;37(8):751–8.

    Article  CAS  Google Scholar 

  • Palamaro L, Romano R, Fusco A, Giardino G, Gallo V, Pignata C. FOXN1 in organ development and human diseases. Int Rev Immunol. 2014;33(2):83–93.

    Article  CAS  Google Scholar 

  • Romano R, Palamaro L, Fusco A, Iannace L, Maio S, Vigliano I, et al. From murine to human nude/SCID: the thymus, T-cell development and the missing link. Clin Dev Immunol. 2012;2012:467101.

    Article  Google Scholar 

  • Rota IA, Dhalla F. FOXN1 deficient nude severe combined immunodeficiency. Orphanet J Rare Dis. 2017;12(1):6.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Allergy and Immunology, University of South Florida/Johns Hopkins All Children’s Hospital, St. Petersburg, FL, USA

    Sonia Joychan & Panida Sriaroon

Authors
  1. Sonia Joychan
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Panida Sriaroon
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Sonia Joychan .

Editor information

Editors and Affiliations

  1. Molecular Biology, Monash University Dept. Biochemistry &, Clayton, VIC, Australia

    Ian MacKay

  2. Autoimmune Disease Research Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    Noel R. Rose

Section Editor information

  1. USF Health, Tampa, Florida, USA

    Jolan Walter

Rights and permissions

Reprints and permissions

Copyright information

© 2019 Springer Science+Business Media, LLC, part of Springer Nature

About this entry

Check for updates. Verify currency and authenticity via CrossMark

Cite this entry

Joychan, S., Sriaroon, P. (2019). Winged Helix Deficiency (FOXN1). In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_175-1

Download citation

  • DOI: https://doi.org/10.1007/978-1-4614-9209-2_175-1

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-9209-2

  • Online ISBN: 978-1-4614-9209-2

  • eBook Packages: Springer Reference MedicineReference Module Medicine

Publish with us

Policies and ethics

Search

Navigation