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

J Exp Med. 2010 Oct 25;207(11):2307-12. doi: 10.1084/jem.20101597. Epub 2010 Sep 27.

Abstract

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 Ca(2+) entry. STIM1 mRNA splicing, protein production, and Ca(2+) 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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Calcium / immunology
  • Calcium / metabolism
  • Child, Preschool
  • Female
  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, Inborn / immunology
  • Genome-Wide Association Study
  • Herpesvirus 8, Human*
  • Homozygote
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Membrane Proteins / immunology
  • Mutation*
  • Neoplasm Proteins / genetics*
  • Neoplasm Proteins / immunology
  • RNA Splice Sites / genetics*
  • Sarcoma, Kaposi / genetics*
  • Sarcoma, Kaposi / immunology
  • Sarcoma, Kaposi / virology
  • Stromal Interaction Molecule 1
  • Turkey

Substances

  • Membrane Proteins
  • Neoplasm Proteins
  • RNA Splice Sites
  • STIM1 protein, human
  • Stromal Interaction Molecule 1
  • Calcium