FOXN1 deficient nude severe combined immunodeficiency
نویسندگان
چکیده
منابع مشابه
FOXN1 deficient nude severe combined immunodeficiency
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 ...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2017
ISSN: 1750-1172
DOI: 10.1186/s13023-016-0557-1