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

4 Jul 2019

Abstract excerpt

Clinical variability in Majeed syndrome, favourable response to IL-1 blockade and recommendations for genetic screening. Sir, Majeed syndrome, resulting from biallelic mutations in LPIN2, is a rare autosomal recessive autoinflammatory syndrome, originally described as a triad of chronic recurrent multifocal osteomyelitis (CRMO) or chronic non-bacterial osteomyelitis (CNO), congenital dyserythropoietic anaemia...

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PMID: 31377798
DOI: 10.1093/rheumatology/kez317

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