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Article

A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation.

Genes and immunity - 1 Mar 2015

Clemente N, Boggio E, Gigliotti C L, Orilieri E, Cappellano G, Toth E, Valletti P A, Santoro C, Quinti I, Pignata C, Notarangelo L D, Dianzani C, Dianzani I, Ramenghi U, Dianzani U, Chiocchetti A

Abstract excerpt

Lymphocyte apoptosis is mainly induced by either death receptor-dependent activation of caspase-8 or mitochondria-dependent activation of caspase-9. Mutations in caspase-8 lead to autoimmunity/lymphoproliferation and immunodeficiency. This work describes a heterozygous H237P mutation in caspase-9 that can lead to similar disorders. H237P mutation was detected in two patients: Pt1 with...

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Source

Identifiers

PMID: 25569260
DOI: 10.1038/gene.2014.74

Genes

ICOS
PRF1
TNF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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