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

ABSTRACT:

Background and objective

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.

Methods

We describe the clinical presentation, genetic analysis, cytokine profiles and response to biological therapy in two brothers with Majeed syndrome.

Results

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 trea

SUBMITTER: Herlin T 

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

REPOSITORIES: biostudies-literature