Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)

• Published in: PloS one Vol. 12; no. 3; p. e0169687
• Main Authors: Cox, Allison J., Darbro, Benjamin W., Laxer, Ronald M., Velez, Gabriel, Bing, Xinyu, Finer, Alexis L., Erives, Albert, Mahajan, Vinit B., Bassuk, Alexander G., Ferguson, Polly J.
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 16.03.2017; Public Library of Science (PLoS)
• Subjects: Amino Acid Sequence; Analysis; Animal models; Animals; Arthritis; Binding sites; Biocompatibility; Biology and Life Sciences; Bone marrow; Bone remodeling; Care and treatment; Cell Adhesion Molecules - chemistry; Cell Adhesion Molecules - genetics; Cell Line, Tumor; Child; Cytoskeletal Proteins - chemistry; Cytoskeletal Proteins - genetics; Diagnosis; DNA microarrays; Female; Frameshift mutation; Gene mutation; Gene sequencing; Genes; Genes, Recessive; Genetic aspects; Genetics; Genomes; Haplotypes; Humans; Immunology; Inflammation; Inflammatory bowel disease; Inflammatory bowel diseases; Interdisciplinary aspects; Interleukin-10 - genetics; Intestine; Laboratories; Macrophages; Mice; Mutation; Osteomyelitis; Osteomyelitis - genetics; Pain; Parents; Pathogenesis; Pediatrics; Promoter Regions, Genetic; Proteins; Psoriasis; Research and Analysis Methods; Rheumatology; Sequence Homology, Amino Acid; Skin diseases; Transcription factors; Tumor necrosis factor-TNF

Chronic recurrent multifocal osteomyelitis (CRMO) is a rare, pediatric, autoinflammatory disease characterized by bone pain due to sterile osteomyelitis, and is often accompanied by psoriasis or inflammatory bowel disease. There are two syndromic forms of CRMO, Majeed syndrome and DIRA, for which th...