Case report: effectiveness of sirolimus in a de novo fas mutation leading to autoimmune lymphoproliferative syndrome-fas and elevated dnt/treg ratio

HIGHLIGHTS

  • who: Tianyou Wang and Runhui Wu from the University of Pisa, Italy have published the article: Case report: Effectiveness of sirolimus in a de novo FAS mutation leading to autoimmune lymphoproliferative syndrome-FAS and elevated DNT/Treg ratio, in the Journal: (JOURNAL)
  • what: The authors reported a single case of a patient with typical ALPS caused by a heterozygous mutation in the FAS gene`s intracellular death domain, a member of the TNF/TNFR superfamily that contains nine exons spanning 26 kb on chromosome 10q24.1 . Before the analysis of DNTs, it is reasonable to . . .

     

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