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

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 investigate...

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Dades bibliogràfiques
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: The Rockefeller University Press 2010
Matèries:
Brief Definitive Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2964585/
https://ncbi.nlm.nih.gov/pubmed/20876309
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20101597
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