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Article

A Novel Cause of CIDP: Homozygous Hotspot Mutation, c.793 C > T in CASP8 Gene.

Journal of clinical immunology - 30 Sept 2025

Sharma Kamal, Flores Ana, Maertens Paul

Abstract excerpt

BACKGROUND: 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. METHODS: Features of our patient with early onset chronic inflammatory demyelinating polyneuropathy (CIDP) are presented in detail. We report features of ALPS...

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Share to Autoimmune Lymphoproliferative Syndrome
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41026346
DOI: 10.1007/s10875-025-01931-w
PMCID: PMC12484370

Genes

FAS
CASP8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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