Das Majeed-Syndrom ist eine autosomal rezessive Erkrankung, die durch Mutationen im LPIN2-Gen ausgelöst wird. Sie ist charakterisiert durch chronisch-rezidivierende multifokale Osteomyelitis, kongenitale, dyserythropoetischen Anämie und eine entzündlichen Dermatose.
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1. |
Majeed HA et. al. (1989) Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings. ![]() |
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Majeed HA et. al. (2000) On mice and men: An autosomal recessive syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia. ![]() |
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Majeed HA et. al. (2001) The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review. ![]() |
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Ferguson PJ et. al. (2005) Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). ![]() |