Chronic recurrent multifocal osteomyelitis (CRMO) in humans can be modeled in <i>Pstpip2<sup>cmo</sup></i> mice, which carry a missense mutation in the proline-serine-threonine phosphatase-interacting protein 2 (<i>Pstpip2</i>) gene.
The genes responsible for Majeed syndrome (LPIN2), murine chronic multifocal osteomyelitis (pstpip2), and cherubism (SH3BP2 and possibly PTPN11) have been identified.
The roles played by LPIN2 and the human homolog of pstpip2, PSTPIP2, in the etiology of chronic recurrent multifocal osteomyelitis are uncertain but are currently being investigated.