A Novel Cause of CIDP: Homozygous Hotspot Mutation, c.793 C > T in CASP8 Gene
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DOI: 10.1007/s10875-025-01931-w
Abstract: Caspase-8 enzyme deficiency (CED) is a rare autosomal recessive inborn error of immunity with autoimmune lymphoproliferative syndromes (ALPS), deficient extrinsic apoptosis and hyperactivation of the mammalian target of rapamycin (mTOR) pathway. Features of our patient… read more here.
Keywords: homozygous hotspot; alps ced; hotspot mutation; cidp ... See more keywords