Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra

Rheumatology (Oxford). 2020 Feb 1;59(2):448-451. doi: 10.1093/rheumatology/kez317.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anemia, Dyserythropoietic, Congenital / drug therapy
  • Anemia, Dyserythropoietic, Congenital / genetics*
  • DNA Mutational Analysis
  • Diphosphonates / therapeutic use*
  • Humans
  • Immunologic Deficiency Syndromes / drug therapy
  • Immunologic Deficiency Syndromes / genetics*
  • Infant
  • Interleukin 1 Receptor Antagonist Protein / therapeutic use*
  • Mutation*
  • Nuclear Proteins / genetics*
  • Osteomyelitis / drug therapy
  • Osteomyelitis / genetics*

Substances

  • Diphosphonates
  • Interleukin 1 Receptor Antagonist Protein
  • LPIN2 protein, human
  • Nuclear Proteins

Supplementary concepts

  • Majeed syndrome