FOXN1 deficient nude severe combined immunodeficiency.
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ABSTRACT:
SUBMITTER: Rota IA
PROVIDER: S-EPMC5225657 | biostudies-literature | 2017 Jan
REPOSITORIES: biostudies-literature
Publications
FOXN1 deficient nude severe combined immunodeficiency.
Rota Ioanna A IA Dhalla Fatima F
Orphanet journal of rare diseases 20170111 1
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 on ...[more]
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