Children with systemic autoinflammatory diseases have multiple, mixed ethnicities that reflect regional ethnic diversity

Abstract

Objective. To evaluate the ethnic diversity of children with a systemic autoinflammatory disease (SAID) in a multiethnic Canadian province. Methods. Self-reported ethnicity of 149 children and adolescents with a SAID in British Columbia, Canada, was analysed for ethnic representation among individual patients, across the cohort, within particular SAIDs, and compared to provincial census data on ethnic diversity. Results. Half of reported cases had a diagnosis of either PFAPA (23.5%) or an unclassifiable autoinflammatory syndrome (31.5%), with a monogenic SAID diagnosed in only 12.8% of cases. The majority of participants (73.1%) were mixed ethnicity with European and Asian heritage reported most frequently (57.0% and 23.0% of all responses, respectively). Ethnic diversity reflected regional diversity except for West Asian, Arabic, Jewish, and Eastern European heritage, which were over-represented in SAID patients, and Chinese descent, which was under-represented in our cohort compared to the general population of British Columbia. Conclusion. Results from this study show extensive multi-ethnic diversity in individual patients and across the various SAIDs inclusive of monogenic SAIDs that are frequently associated with particular ethnicities. Although not disproportionately represented, this is the first report of systemic autoinflammatory disease in Canadian children of Indigenous heritage.

Anti-LAMP-2 Antibody Seropositivity in Children with Primary Systemic Vasculitis Affecting Medium- and Large-Sized Vessels

“…Cohort characteristics are summarized in Supplementary Table S1. Approval from the Children's and Women's Research Ethics Board of the University of British Columbia was obtained to record diagnostic and demographic data in a research database (H14-00272) [36] and to collect and store (as described for PSV patients) sera (H15-00351). Sera were used to establish a range of LAMP-2-ANCA concentrations associated with systemic inflammation, as indicated by concentrations of human C-reactive protein (CRP ELISA kit) according to the manufacturer's instructions (ThermoFisher, Waltham, MA, USA).…”

Breaking down the fences among registries on autoinflammatory diseases: the E-Merge project

“…The great increase in the number of SAIDs in the last 20 years, highlighted the limits of carrying unique registries for each condition, thus prompting the need for establishing common registries that can enroll patients with different diseases and are flexible enough to include the newly identified conditions [ 3 , 8 , 9 ].…”