Autoinflammatory bone disorders: update on immunologic abnormalities and clues about possible triggers

Manisha Sharma; Polly J Ferguson

doi:10.1097/BOR.0b013e328363eb08

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Journal article

Autoinflammatory bone disorders: update on immunologic abnormalities and clues about possible triggers

Manisha Sharma and Polly J Ferguson

Current opinion in rheumatology, Vol.25(5), pp.658-664

09/2013

DOI: 10.1097/BOR.0b013e328363eb08

PMCID: PMC4912130

PMID: 23917160

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https://www.ncbi.nlm.nih.gov/pmc/articles/4912130View

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Abstract

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. 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. 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.

Recurrence

Humans

Osteomyelitis - genetics

Anemia, Dyserythropoietic, Congenital - genetics

Hereditary Autoinflammatory Diseases - immunology

Immunity, Innate

Osteomyelitis - drug therapy

Osteomyelitis - immunology

Anemia, Dyserythropoietic, Congenital - immunology

Osteomyelitis - etiology

Anemia, Dyserythropoietic, Congenital - etiology

Animals

Dogs

Mice

Interleukin-1 - antagonists & inhibitors

Acquired Hyperostosis Syndrome - microbiology

Gram-Positive Bacterial Infections - complications

Propionibacterium acnes

Anemia, Dyserythropoietic, Congenital - drug therapy

Chronic Disease

Tumor Necrosis Factor-alpha - antagonists & inhibitors

Disease Models, Animal

Hereditary Autoinflammatory Diseases - genetics

Details

Title: Subtitle: Autoinflammatory bone disorders: update on immunologic abnormalities and clues about possible triggers
Creators: Manisha Sharma - Divisions of Rheumatology in Internal Medicine and Pediatrics, University of Iowa, Iowa City, Iowa 52240, USA
Polly J Ferguson
Resource Type: Journal article
Publication Details: Current opinion in rheumatology, Vol.25(5), pp.658-664
DOI: 10.1097/BOR.0b013e328363eb08
PMID: 23917160
PMCID: PMC4912130
NLM abbreviation: Curr Opin Rheumatol
ISSN: 1040-8711
eISSN: 1531-6963
Publisher: United States
Grant note: R01 AR059703 / NIAMS NIH HHS
Language: English
Date published: 09/2013
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Rheumatology, Allergy, and Immunology
Record Identifier: 9984065826402771

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