Mutation of TNFRSF13B in a child with 22q11 deletion syndrome associated with granulomatous lymphoproliferation

J Allergy Clin Immunol. 2015 Feb;135(2):559-61. doi: 10.1016/j.jaci.2014.07.025. Epub 2014 Aug 28.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • 22q11 Deletion Syndrome / diagnosis*
  • 22q11 Deletion Syndrome / genetics*
  • 22q11 Deletion Syndrome / therapy
  • Adolescent
  • Child
  • Fatal Outcome
  • Granuloma / pathology
  • Humans
  • Liver / pathology
  • Lung / pathology
  • Mutation*
  • Transmembrane Activator and CAML Interactor Protein / genetics*

Substances

  • TNFRSF13B protein, human
  • Transmembrane Activator and CAML Interactor Protein