A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis.

@article{Ferguson2006AMM,
  title={A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis.},
  author={Polly J Ferguson and Xinyu Bing and Mohammed A Vasef and Luis Armando Ochoa and Amar Mahgoub and Thomas J Waldschmidt and Lorraine T. Tygrett and Annette J. Schlueter and Hatem El-Shanti},
  journal={Bone},
  year={2006},
  volume={38 1},
  pages={41-7}
}
Chronic recurrent multifocal osteomyelitis (CRMO) is an autoinflammatory disorder that primarily affects bone but is often accompanied by inflammation of the skin and/or gastrointestinal tract. The etiology is unknown but evidence suggests a genetic component to disease susceptibility. Although most cases of CRMO are sporadic, there is an autosomal recessive syndromic form of the disease, called Majeed syndrome, which is due to homozygous mutations in LPIN2. In addition, there is a… CONTINUE READING

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