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Article

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma.

The Journal of experimental medicine - 25 Oct 2010

Byun Minji, Abhyankar Avinash, Lelarge Virginie, Plancoulaine Sabine, Palanduz Ayse, Telhan Leyla, Boisson Bertrand, Picard Capucine, Dewell Scott, Zhao Connie, Jouanguy Emmanuelle, Feske Stefan, Abel Laurent, Casanova Jean-Laurent

Abstract excerpt

Classic Kaposi sarcoma (KS) is exceedingly rare in children from the Mediterranean Basin, despite the high prevalence of human herpesvirus-8 (HHV-8) infection in this region. We hypothesized that rare single-gene inborn errors of immunity to HHV-8 may underlie classic KS in childhood. We investig...

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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: 20876309
DOI: 10.1084/jem.20101597
PMCID: PMC2964585

Genes

STIM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20876309-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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