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http://dx.doi.org/10.1016/j.leukres.2020.106493DOI Listing

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Article Synopsis
  • Human nude SCID is a genetic disorder causing immune deficiency, characterized primarily by a lack of thymus development (congenital athymia), hair loss (alopecia), and nail deformities (nail dystrophy), with only a few cases documented so far.
  • Recent advancements in newborn screening and genetic sequencing have uncovered new cases and a range of immune system issues in patients with different mutation types in the FOXN1 gene.
  • The study analyzed clinical data from 18 patients, revealing variations in symptoms and severity; many exhibited forms of severe immune deficiency, while some showed atypical phenotypes, suggesting that mutation type and residual gene function impact disease severity.
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