KEGG   DISEASE: Chronic recurrent multifocal osteomyelitis
Entry
H01117                      Disease                                
Name
Chronic recurrent multifocal osteomyelitis
  Subgroup
Majeed syndrome
Interleukin 1 receptor antagonist deficiency [DS:H01275]
Description
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.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Autoinflammatory disorders
   4A6Y  Other specified autoinflammatory disorders
    H01117  Chronic recurrent multifocal osteomyelitis
Gene
(CRMO1) LPIN2 [HSA:9663] [KO:K15728]
(CRMO2) IL1RN [HSA:3557] [KO:K05481]
(CRMO3) IL1R1 [HSA:3554] [KO:K04386]
Other DBs
ICD-11: 4A6Y
ICD-10: D89.8
MeSH: C537839 C557815
OMIM: 609628 612852 259680
Reference
  Authors
Al-Mosawi ZS, Al-Saad KK, Ijadi-Maghsoodi R, El-Shanti HI, Ferguson PJ
  Title
A splice site mutation confirms the role of LPIN2 in Majeed syndrome.
  Journal
Arthritis Rheum 56:960-4 (2007)
DOI:10.1002/art.22431
Reference
PMID:15994876 (CRMO1)
  Authors
Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, Munnich A, Lyonnet S, Majeed HA, El-Shanti H
  Title
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).
  Journal
J Med Genet 42:551-7 (2005)
DOI:10.1136/jmg.2005.030759
Reference
PMID:19494218 (CRMO2)
  Authors
Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, Laxer R, Tedgard U, Cowen EW, Pham TH, Booty M, Estes JD, Sandler NG, Plass N, Stone DL, Turner ML, Hill S, Butman JA, Schneider R, Babyn P, El-Shanti HI, Pope E, Barron K, Bing X, Laurence A, Lee CC, Chapelle D, Clarke GI, Ohson K, Nicholson M, Gadina M, Yang B, Korman BD, Gregersen PK, van Hagen PM, Hak AE, Huizing M, Rahman P, Douek DC, Remmers EF, Kastner DL, Goldbach-Mansky R
  Title
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist.
  Journal
N Engl J Med 360:2426-37 (2009)
DOI:10.1056/NEJMoa0807865
Reference
PMID:37315560 (CRMO3)
  Authors
Wang Y, Wang J, Zheng W, Zhang J, Wang J, Jin T, Tao P, Wang Y, Liu C, Huang J, Lee PY, Yu X, Zhou Q
  Title
Identification of an IL-1 receptor mutation driving autoinflammation directs IL-1-targeted drug design.
  Journal
Immunity 56:1485-1501.e7 (2023)
DOI:10.1016/j.immuni.2023.05.014

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