Different phenotypes of the same XIAP mutation in a family: A case of XIAP deficiency with juvenile idiopathic arthritis

Pediatr Blood Cancer. 2019 May;66(5):e27593. doi: 10.1002/pbc.27593. Epub 2019 Jan 2.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Arthritis, Juvenile / genetics*
  • Arthritis, Juvenile / pathology*
  • Child, Preschool
  • Family
  • Female
  • Humans
  • Infant
  • Male
  • Mutation*
  • Phenotype
  • Prognosis
  • X-Linked Inhibitor of Apoptosis Protein / deficiency*
  • X-Linked Inhibitor of Apoptosis Protein / genetics*

Substances

  • X-Linked Inhibitor of Apoptosis Protein
  • XIAP protein, human