The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review

Majeed, H. A.; Al-Tarawna, Mosleh; El‐Shanti, Hatem; Kamel, Basem; Al-Khalaileh, Fatma

doi:10.1007/s004310100799

Cited by 112 publications

(124 citation statements)

References 15 publications

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“…Deletion of lipin 1 in mice causes lipodystrophy, fatty liver, and peripheral neuropathy, although humans lacking lipin 1 exhibit myoglobinuria, rhabdomyolysis, and inflammation (5). Genetic alteration in lipin 2 is known to cause Majeed syndrome, which is characterized by the formation of osteomyelitic lesions near the ends of long bones and dysperythropoietic anemia (10).…”

Section: Lipin 2 Is a Mg 2ϩmentioning

confidence: 99%

Lipin 2 Binds Phosphatidic Acid by the Electrostatic Hydrogen Bond Switch Mechanism Independent of Phosphorylation

Eaton

Takkellapati

Lawrence

et al. 2014

Journal of Biological Chemistry

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Background: Lipin 2 is a phosphatidic acid phosphatase (PAP) responsible for DAG formation at the ER membrane during lipogenesis. Results: A combination of biochemical approaches is used to characterize lipin 2 phosphatase activity and regulation. Conclusion: The electrostatic charge of PA regulates activity, but phosphorylation does not.Significance: These findings demonstrate differential regulation of PAP activity within the lipin family.

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Section: Lipin 2 Is a Mg 2ϩmentioning

confidence: 99%

Lipin 2 Binds Phosphatidic Acid by the Electrostatic Hydrogen Bond Switch Mechanism Independent of Phosphorylation

Eaton

Takkellapati

Lawrence

et al. 2014

Journal of Biological Chemistry

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“…There are reports of affected siblings (with unaffected parents), concordance in monozygotic twins and a report of child with CRMO whose father had noninfectious osteomyelitis of the sternum [10][11][12][13]. There is an autosomal recessive syndromic form of CRMO (Majeed syndrome) which is caused by mutations in LPIN2 [14][15][16][17]. In addition, a CRMO susceptibility locus has been mapped to human chromosome 18q21.3-22 [13].…”

Section: Introductionmentioning

confidence: 99%

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

Ferguson

Bing

Vasef

et al. 2006

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197

154

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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 phenotypically similar mouse, called cmo (chronic multifocal osteomyelitis) in which the disease is inherited as an autosomal recessive disorder. The cmo locus has been mapped to murine chromosome 18. In this report, we describe phenotypic abnormalities in the cmo mouse that include bone, cartilage and skin inflammation. Utilizing a backcross breeding strategy, we refined the cmo locus to a 1.3 Mb region on murine chromosome 18. Within the refined region was the gene pstpip2, which shares significant sequence homology to the PSTPIP1. Mutations in PSTPIP1 have been shown to cause the autoinflammatory disorder PAPA syndrome (pyogenic arthritis, pyoderma gangrenosum and acne). Mutation analysis, utilizing direct sequencing, revealed a single base pair change c.293T → C in the pstpip2 gene resulting in a highly conserved leucine at amino acid 98 being replaced by a proline (L98P). No other mutations were found in the coding sequence of the remaining genes in the refined interval, although a 50 kb gap remains unexplored. These data suggest that mutations in pstpip2 may be the genetic explanation for the autoinflammatory phenotype seen in the cmo mouse.

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“…7,124 The osteomyelitis of Majeed syndrome may affect the clavicles, sternum, long bones, and, less commonly, the jaw or vertebrae. 122,125 Bone biopsy reveals nonspecific granulocytic infiltration. 123,125 Antibiotics are of no use in the treatment of Majeed syndrome.…”

Section: Majeed Syndromementioning

confidence: 99%

“…123,125 Antibiotics are of no use in the treatment of Majeed syndrome. 7,125 Some patients may benefit from therapy with NSAIDs, corticosteroids, interferon gamma, bisphosphonates, and anti-TNF agents. 7…”

Section: Majeed Syndromementioning

confidence: 99%

Síndromes autoinflamatórias hereditárias na faixa etária pediátrica

Jesus¹,

Oliveira²,

Hilário³

et al. 2010

J. Pediatr. (Rio J.)

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Objective: To describe the most prevalent pediatric hereditary autoinflammatory syndromes.Sources: A review of the literature including relevant references from the PubMed and SciELO was carried out using the keywords autoinflammatory syndromes and child. Summary of the findings:The hereditary autoinflammatory syndromes are caused by monogenic defects of innate immunity and are classified as primary immunodeficiencies. These syndromes are characterized by recurrent or persistent systemic inflammatory symptoms and must be distinguished from infectious diseases, autoimmune diseases, and other primary immunodeficiencies. This review describes the epidemiological, clinical and laboratory features, prognosis, and treatment of the main autoinflammatory syndromes, namely: familial Mediterranean fever; TNF receptor associated periodic syndrome; the cryopyrinopathies; mevalonate kinase deficiency; pediatric granulomatous arthritis; pyogenic arthritis, pyoderma gangrenosum and acne syndrome; Majeed syndrome; and deficiency of interleukin 1 receptor antagonist. The cryopyrinopathies discussed include neonatal-onset multisystem inflammatory disease (also known as chronic infantile neurologic, cutaneous and articular syndrome) Muckle-Wells syndrome, and familial cold autoinflammatory syndrome. Conclusions:Pediatricians must recognize the clinical features of the most prevalent autoinflammatory syndromes. Early referral to a pediatric rheumatologist may allow early diagnosis and institution of treatment, with improvement in the quality of life of these patients.

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The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review

Cited by 112 publications

References 15 publications

Lipin 2 Binds Phosphatidic Acid by the Electrostatic Hydrogen Bond Switch Mechanism Independent of Phosphorylation

Lipin 2 Binds Phosphatidic Acid by the Electrostatic Hydrogen Bond Switch Mechanism Independent of Phosphorylation

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

Síndromes autoinflamatórias hereditárias na faixa etária pediátrica

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