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Objectives: To determine the influence of HLA-B27 positivity on risk of developing chronic nonbacterial osteomyelitis (CNO). Methods: HLA-B*27 genotype was assessed in 3 European CNO populations and compared with local control populations (572 cases, 33,256 controls). Regional or whole-body MRI was performed at diagnosis and follow-up in all cases which reduces the risk of disease misclassification. Genotyping was performed using either next generation DNA sequencing or PCR based molecular typing. Statistical analysis used Fisher's exact test with Bonferroni correction and a fixed effects model for meta-analysis of odds ratios. Results: HLA-B*27 frequency was higher in all 3 populations compared with local controls (combined odds ratio (OR) = 2.2, p-value = 3 × 10–11). This association was much stronger in male compared with female cases (OR = 1.99, corrected p-value = 0.015). However, the HLA-B*27 status was not statistically significantly associated with co-occurrence of psoriasis, arthritis or inflammatory bowel disease. Conclusion: Carriage of HLA-B*27 is associated with greater risk of developing CNO, particularly in male cases. [ABSTRACT FROM AUTHOR]

Background: Chronic nonbacterial osteomyelitis (CNO) is an autoinflammatory disease affecting bone with considerable phenotypic heterogeneity and variable association with other autoinflammatory conditions. Disease pathogenesis is incompletely understood, and treatment protocols vary between physicians with no clinical treatment guidelines available prior to 2017. Although CNO was previously considered benign, it is now clear that long-term sequelae do occur. The aim of this study is to provide a detailed phenotypic description of children and adolescents with CNO who attended tertiary paediatric rheumatology services in Ireland between September 2017 and September 2019, their disease course, treatment and outcomes. Methods: This study involved retrospective review of clinical notes, laboratory, radiology and histology results of Irish children and adolescents with CNO who are currently attending tertiary paediatric rheumatology services. The Bristol diagnostic criteria were applied retrospectively; only patients who met these criteria were included. Criteria for remission and partial response were based on the Childhood Arthritis and Rheumatology Research Alliance (CARRA) criteria for treatment failure. Results: Forty-four children and adolescents were recruited. Demographics in terms of age of onset, gender and number of sites were similar to those previously reported. Overall, 18/44 (40.9%) had extraosseous manifestations associated with CNO; 12/44 (27.2%) had cutaneous involvement. All patients received a regular nonsteroidal anti-inflammatory drug (NSAID) after diagnosis with 27/44 (61.4%) requiring at least 1 second-line medication. Second-line agents used in this cohort were bisphosphonates, methotrexate and TNF-blockers. No patients received systemic corticosteroids. Conclusion: This national cohort showed a high prevalence of extraosseous involvement and a low response rate to NSAID treatment. This may reflect a more inflammatory phenotype and highlights the need to define different subtypes of CNO. [ABSTRACT FROM AUTHOR]

Abbreviations CNO Chronic nonbacterial osteomyelitis SAPHO Synovitis acne hyperostosis osteitis MAF Minor allele frequency NFE Non-Finnish European MQ Mapping quality QD Depth of coverage Publisher's Note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Keywords: Chronic nonbacterial osteomyelitis; CNO; Chronic recurrent multifocal osteomyelitis; CRMO; Autoinflammation; FBLIM1 gene EN Chronic nonbacterial osteomyelitis CNO Chronic recurrent multifocal osteomyelitis CRMO Autoinflammation FBLIM1 gene 1 2 2 03/19/21 20210317 NES 210317 Dear Sir, We read with interest the recent article by d'Adamo et al. demonstrating a high prevalence of rare I FBLIM1 i gene variants in an Italian cohort with CNO [[1]]. Chronic nonbacterial osteomyelitis, CNO, Chronic recurrent multifocal osteomyelitis, CRMO, Autoinflammation, FBLIM1 gene. [Extracted from the article]