Inborn Errors of Immunity on the Island of Ireland — a Cross-Jurisdictional UKPID/ESID Registry Report
Paul Ryan, Vyanka Redenbaugh, Jayne McGucken, Gerhard Kindle, Lisa Devlin, Tanya Coulter, Matthew Buckland, Mikko Seppänen, Niall Conlon, Conleth Feighery, David Edgar
Abstract
The epidemiology of inborn errors of immunity (IEI) in the Republic of Ireland was first published in 2005 but has not been updated since. IEI prevalence data from Northern Ireland was last published in 2018. Using data from the United Kingdom Primary Immune Deficiency (UKPID) and European Society for Immunodeficiencies (ESID) registries, we reviewed all registered cases of IEI affecting adult patients ≥ 18 years of age from the two largest immunology specialist centres in Northern Ireland and the Republic of Ireland, respectively and calculated the combined minimum adult prevalence of IEI on the island of Ireland for the first time. We also recorded data pertaining to presenting symptoms of IEI, diagnostic delay, immunoglobulin data, and genetic testing, as well as briefly reporting data pertaining to secondary immunodeficiency in both countries. As of 1 May 2020, we identified a minimum adult IEI prevalence in Ireland of 8.85/100,000 population.