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FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches.

Authors
  • Gallo, Vera1
  • Cirillo, Emilia1
  • Giardino, Giuliana1
  • Pignata, Claudio2
  • 1 Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via S. Pansini, 5, 80131, Naples, Italy. , (Italy)
  • 2 Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Via S. Pansini, 5, 80131, Naples, Italy. [email protected] , (Italy)
Type
Published Article
Journal
Journal of Clinical Immunology
Publisher
Springer-Verlag
Publication Date
Nov 01, 2017
Volume
37
Issue
8
Pages
751–758
Identifiers
DOI: 10.1007/s10875-017-0445-z
PMID: 28932937
Source
Medline
Keywords
License
Unknown

Abstract

Since the discovery of FOXN1 deficiency, the human counterpart of the nude mouse, a growing body of evidence investigating the role of FOXN1 in thymus and skin, has been published. FOXN1 has emerged as fundamental for thymus development, function, and homeostasis, representing the master regulator of thymic epithelial and T cell development. In the skin, it also plays a pivotal role in keratinocytes and hair follicle cell differentiation, although the underlying molecular mechanisms still remain to be fully elucidated. The nude severe combined immunodeficiency phenotype is indeed characterized by the clinical hallmarks of athymia with severe T cell immunodeficiency, congenital alopecia, and nail dystrophy. In this review, we summarize recent discoveries in the field and give interesting perspective about new and promising therapeutic approaches for disorders of immune system with athymia.

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