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Efficacy of anti-IL-1 treatment in Majeed syndrome.


ABSTRACT: Majeed syndrome is an autosomal recessive disorder characterised by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia and a neutrophilic dermatosis that is caused by mutations in LPIN2. Long-term outcome is poor. This is the first report detailing the treatment of Majeed syndrome with biological agents and demonstrates clinical improvement with IL-1blockade.We describe the clinical presentation, genetic analysis, cytokine profiles and response to biological therapy in two brothers with Majeed syndrome.Both boys were homozygous for a novel 2-base pair deletion in LPIN2 (c.1312_1313delCT; p.Leu438fs+16X), confirming the diagnosis. Their bone disease and anaemia were refractory to treatment with corticosteroids. Both siblings had elevated proinflammatory cytokines in their serum, including tumour necrosis factor ? (TNF-?), however a trial of the TNF inhibitor etanercept resulted in no improvement. IL-1 inhibition with either a recombinant IL-1 receptor antagonist (anakinra) or an anti-IL-1? antibody (canakinumab) resulted in dramatic clinical and laboratory improvement.The differential response to treatment with TNF-? or IL-1 blocking agents sheds light into disease pathogenesis; it supports the hypothesis that Majeed syndrome is an IL-1? dependent autoinflammatory disorder, and further underscores the importance of IL-1 in sterile bone inflammation.

SUBMITTER: Herlin T 

PROVIDER: S-EPMC3660147 | biostudies-literature | 2013 Mar

REPOSITORIES: biostudies-literature

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Efficacy of anti-IL-1 treatment in Majeed syndrome.

Herlin Troels T   Fiirgaard Bente B   Bjerre Mette M   Kerndrup Gitte G   Hasle Henrik H   Bing Xinyu X   Ferguson Polly J PJ  

Annals of the rheumatic diseases 20121020 3


<h4>Background and objective</h4>Majeed syndrome is an autosomal recessive disorder characterised by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia and a neutrophilic dermatosis that is caused by mutations in LPIN2. Long-term outcome is poor. This is the first report detailing the treatment of Majeed syndrome with biological agents and demonstrates clinical improvement with IL-1blockade.<h4>Methods</h4>We describe the clinical presentation, genetic  ...[more]

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