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

AuthorsNoémi B A Roy, Ahmad I Zaal, Georgina Hall, Nick Wilkinson, Melanie Proven, Simon McGowan, Ria Hipkiss, Veronica Buckle, Akhila Kavirayani, Christian Babbs
JournalRheumatology (Oxford, England) (Rheumatology (Oxford)) Vol. 59 Issue 2 Pg. 448-451 (02 01 2020) ISSN: 1462-0332 [Electronic] England
PMID31377798 (Publication Type: Case Reports, Letter, Research Support, Non-U.S. Gov't)
Chemical References
  • Diphosphonates
  • Interleukin 1 Receptor Antagonist Protein
  • LPIN2 protein, human
  • Nuclear Proteins
Topics
  • Anemia, Dyserythropoietic, Congenital (drug therapy, genetics)
  • DNA Mutational Analysis
  • Diphosphonates (therapeutic use)
  • Humans
  • Immunologic Deficiency Syndromes (drug therapy, genetics)
  • Infant
  • Interleukin 1 Receptor Antagonist Protein (therapeutic use)
  • Mutation
  • Nuclear Proteins (genetics)
  • Osteomyelitis (drug therapy, genetics)

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