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2013 ; 25
(5
): 658-64
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Autoinflammatory bone disorders: update on immunologic abnormalities and clues
about possible triggers
#MMPMID23917160
Sharma M
; Ferguson PJ
Curr Opin Rheumatol
2013[Sep]; 25
(5
): 658-64
PMID23917160
show ga
PURPOSE OF REVIEW: To provide an update on the genetics and immunologic basis of
autoinflammatory bone disorders including chronic recurrent multifocal
osteomyelitis including the monogenic forms of the disease. RECENT FINDINGS:
Ongoing research in murine, canine and human models of sterile bone inflammation
has solidified the hypothesis that sterile bone inflammation can be genetically
driven. Mutations in Pstpip2, LPIN2 and IL1RN have been identified in monogenic
autoinflammatory bone disorders that have allowed more detailed dissection of the
immunologic defects that can produce sterile osteomyelitis. Recent studies in
murine chronic multifocal osteomyelitis, deficiency of the interleukin-1 receptor
antagonist (DIRA), Majeed syndrome and SAPHO syndrome reveal abnormalities in
innate immune system function. IL-1 pathway dysregulation is present in several
of these disorders and blocking IL-1 therapeutically has resulted in control of
disease in DIRA, Majeed syndrome and in some cases of SAPHO and CRMO. Basic
research demonstrates the importance of the innate immune system in disease
pathogenesis and offers clues about potential disease triggers. SUMMARY: Research
and clinical data produced over the last several years support the important role
of innate immunity in sterile osteomyelitis. Based on what has been learned in
the monogenic autoinflammatory bone disorders, IL-1 is emerging as an important
pathway in the development of sterile bone inflammation.