Article

Effectiveness of sirolimus in a patient with a novel heterozygous FAS mutation leading to severe autoimmune lymphoproliferative syndrome

2021-02-25

Abstract excerpt

<title>Abstract</title> <p>Here we report a patient with a novel mutation in the FAS gene associated with a severe phenotype of the autoimmune lymphoproliferative syndrome. FAS gene identified as a novel spontaneous somatic heterozygous missense mutation (c.857G > A, p.G286E) in exon 9, causing an amino acid exchange was identified using sequencing. Consequently, the treatment with sirolimus (1mg/d, blood concent...

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Literature Corpus work: 9b8b2617-e302-5d7d-ad83-dbb2f3e1c8b0
DOI: 10.21203/rs.3.rs-173979/v1

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