| H01117 | |
| H番号 | H01117 |
| 名称 | 慢性再発性多発性骨髄炎; Majeed 症候群 |
| 概要 | Chronic recurrent multifocal osteomyelitis (CRMO), also known as Majeed syndrome, is a rare, autosomal recessive autoinflammatory disorder consisting of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis. It has been reported that mutations in LPIN2 are responsible for this syndrome. |
| カテゴリ | 免疫系疾患 |
| ネットワーク | - |
| 病因遺伝子 | LPIN2 [HSA:9663] [KO:K15728] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 4A00.Y ICD-10: D89.8 MeSH: C537839 OMIM: 609628 |
| 文献 | PMID:17330256 著者 Al-Mosawi ZS, Al-Saad KK, Ijadi-Maghsoodi R, El-Shanti HI, Ferguson PJ タイトル A splice site mutation confirms the role of LPIN2 in Majeed syndrome. 雑誌 Arthritis Rheum 56:960-4 (2007) DOI:10.1002/art.22431 PMID:15994876 著者 Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, Munnich A, Lyonnet S, Majeed HA, El-Shanti H タイトル Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). 雑誌 J Med Genet 42:551-7 (2005) DOI:10.1136/jmg.2005.030759 |