FOXN1 deficient nude severe combined immunodeficiency
FOXN1 deficient nude severe combined immunodeficiency
About this item
Full title
Author / Creator
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
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 th...
Alternative Titles
Full title
FOXN1 deficient nude severe combined immunodeficiency
Authors, Artists and Contributors
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5225657
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5225657
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-016-0557-1
