The DOI matches its Crossref record; 25 of the 25 references it cites were found in a registry or an index.
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma
Open accessAbstract
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 investigated a child with no other unusually severe infectious or tumoral phenotype who died from disseminated KS at two years of age. Whole-exome sequencing in the patient revealed a homozygous splice-site mutation in STIM1, the gene encoding stromal interaction molecule 1, which regulates store-operated Ca2+ entry. STIM1 mRNA splicing, protein production, and Ca2+ influx were completely abolished in EBV-transformed B cell lines from the patient, but were rescued by the expression of wild-type STIM1. Based on the previous discovery of STIM1 deficiency in a single family with a severe T cell immunodeficiency and the much higher risk of KS in individuals with acquired T cell deficiencies, we conclude that STIM1 T cell deficiency precipitated the development of lethal KS in this child upon infection with HHV-8. Our report provides the first evidence that isolated classic KS in childhood may result from single-gene defects and provides proof-of-principle that whole-exome sequencing in single patients can decipher the genetic basis of rare inborn errors.
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Cites
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Metadata
- Authors
- Byun, M., Abhyankar, A., Lelarge, V., Plancoulaine, S., Palanduz, A., Telhan, L., Boisson, B., Picard, C., Dewell, S., Zhao, C., Jouanguy, E., Feske, S., Abel, L., & Casanova, J.-L.
- Venue
- Journal of Experimental Medicine
- Publisher
- Rockefeller University Press
- Published
- 2010-09-27
- Volume
- 207
- Issue
- 11
- Pages
- 2307-2312
- ISSN
- 0022-1007 (ISSN-L)
- 1540-9538
- OpenAlex
- W2132943662
- Cited by
- 299
- References
- 25
- FWCI
- 11.71
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. https://app.cochat.ai/papers/10.1084/jem.20101597
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- Byun, M., Abhyankar, A., Lelarge, V., Plancoulaine, S., Palanduz, A., Telhan, L., Boisson, B., Picard, C., Dewell, S., Zhao, C., Jouanguy, E., Feske, S., Abel, L., & Casanova, J.-L. (2010). Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. Journal of Experimental Medicine. https://doi.org/10.1084/jem.20101597
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