Many times, these disorders are associated with mutations in a specific gene-MEFV with familial Mediterranean fever (FMF), NLRP3 with Muckle-Wells syndrome (MWS), TNFRSF1A with tumor necrosis factor (TNF)-associated periodic syndrome (TRAPS), MVK with hyperimmunoglobulinemia D with periodic fever syndrome (HIDS), and LPIN2 with Majeed syndrome (1).
It is an autosomal recessive disorder at the LPIN2 gene (3).
Mutations in LPIN2
, PSTPIP2 and FBL1M1 genes have been found in mice and human studies .
Additionally, the Periodic Fever Syndromes Panel was performed (testing for LPIN2, MEFV, MVK, NLRP3, PSTPTP1, and TNFRSF1A) and returned positive for MEFV (Mediterranean fever) with nucleic acid change c.
We suggest patients who present to transplant physicians for evaluation need to have ELANE testing along with additional comprehensive testing like Periodic Fever Syndromes Panel testing for LPIN2, MEFV, MVK, NLRP3, PSTPTP1, and TNFRSF1A, in addition to routine marrow assessment with FISH and conventional cytogenetics and morphological evaluation for MDS/AML.
Mammals express three lipin proteins, namely lipin1, lipin2 and lipin3, and are encoded by their respective genes Lpinl, Lpin2, and Lpin3 (Peterfy et al., 2001).
Mutations in human Lpinl cause severe myoglobinuria in childhood (Michot et al., 2010), and those in Lpin2 are associated with an autoinflammatory bone disease known as Majeed syndrome (Herlin et al., 2013).
Majeed's syndrome###Lipin 2 (LPIN2
Majeed syndrome is a rare autosomal recessive clinical entity, first identified in 1989, caused by mutations in the LPIN2 gene, localized on the short arm of chromosome 18, which codifies the lipin-2 protein, expressed in liver, kidney, gastrointestinal tract, lymphatic tissue, and bone marrow .
Ferguson, "A splice site mutation confirms the role of LPIN2 in Majeed syndrome," Arthritis and Rheumatism, vol.
The disease is caused by homozygous mutations in the LPIN2
gene (Table 1) encoding for lipin 2, the role of which has not yet been clarified .
Mutations in LPIN2
cause a syndromic form of CRMO, and mutations in proline-serinethreonine phosphatase interacting protein 2 (PSTPIP2) cause a murine form of the disorder.