Novel mutation of the LPIN2 gene in Turkish brothers with Majeed syndrome. Response to IL-1 inhibition
نویسندگان
چکیده
Background Majeed syndrome is a rare, syndromic form of chronic recurrent multifocal osteomyelitis (CRMO) first described in 1989. The syndrome starts during infancy with recurrent relapses of osteomyelitis typically associated with fever, congenital dyserythropoietic anemia (CDA) and often neutrophilic dermatosis (Sweet syndrome). Homozygous mutations in the LPIN2 gene located on the short arm of chromosome 18 have been identified as being responsible for the Majeed syndrome.
منابع مشابه
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).
BACKGROUND Majeed syndrome is an autosomal recessive, autoinflammatory disorder characterised by chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. The objectives of this study were to map, identify, and characterise the Majeed syndrome causal gene and to speculate on its function and role in skin and bone inflammation. METHODS Six individuals with Majeed syn...
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