Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

Winged Helix Deficiency (FOXN1)

  • Sonia JoychanEmail author
  • Panida Sriaroon
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_175-1

Synonyms

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...

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References

  1. Bonilla F, Notarangelo L. Nathan and Oski’s hematology and oncology of infancy and childhood. 8th ed. Philadelphia: Elsevier; 2015.Google Scholar
  2. 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.CrossRefGoogle Scholar
  3. 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.CrossRefGoogle Scholar
  4. 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.CrossRefGoogle Scholar
  5. Rota IA, Dhalla F. FOXN1 deficient nude severe combined immunodeficiency. Orphanet J Rare Dis. 2017;12(1):6.CrossRefGoogle Scholar

Copyright information

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

Authors and Affiliations

  1. 1.Division of Allergy and ImmunologyUniversity of South Florida/Johns Hopkins All Children’s HospitalSt. PetersburgUSA

Section editors and affiliations

  • Jolan Walter
    • 1
  1. 1.USF HealthTampaUSA