FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches - PubMed (original) (raw)
Review
. 2017 Nov;37(8):751-758.
doi: 10.1007/s10875-017-0445-z. Epub 2017 Sep 21.
Affiliations
- PMID: 28932937
- DOI: 10.1007/s10875-017-0445-z
Review
FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches
Vera Gallo et al. J Clin Immunol. 2017 Nov.
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.
Keywords: Athymia; FOXN1; Nude SCID phenotype; Nude mouse; Severe combined immunodeficiency; T cell development; Thymus transplantation.
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