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

Roy NBA., Zaal AI., Hall G., Wilkinson N., Proven M., McGowan S., Hipkiss R., Buckle V., Kavirayani A., Babbs C.

DOI

10.1093/rheumatology/kez317

Type

Journal article

Journal

Rheumatology (Oxford)

Publication Date

01/02/2020

Volume

59

Pages

448 - 451

Keywords

Anemia, Dyserythropoietic, Congenital, DNA Mutational Analysis, Diphosphonates, Humans, Immunologic Deficiency Syndromes, Infant, Interleukin 1 Receptor Antagonist Protein, Mutation, Nuclear Proteins, Osteomyelitis

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