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FOXN1 deficient nude severe combined immunodeficiency

Abstract:

Nude severe combined immunodeficiency is a rare inherited disease caused by autosomal recessive loss-of-function mutations in FOXN1. This gene encodes a transcription factor essential for the development of the thymus, the primary lymphoid organ that supports T-cell development and selection. To date nine cases have been reported presenting with the clinical triad of absent thymus resulting in severe T-cell immunodeficiency, congenital alopecia universalis and nail dystrophy. Diagnosis relies...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1186/s13023-016-0557-1

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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Paediatrics
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Paediatrics
Publisher:
BioMed Central Publisher's website
Journal:
Orphanet Journal of Rare Diseases Journal website
Volume:
12
Issue:
1
Pages:
Article: 6
Publication date:
2017-01-11
Acceptance date:
2016-12-15
DOI:
ISSN:
1750-1172
Pubs id:
pubs:671553
URN:
uri:2b69f653-4938-439b-8377-e406571a2db1
UUID:
uuid:2b69f653-4938-439b-8377-e406571a2db1
Local pid:
pubs:671553

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