Valuable lessons from analyses of common signs and symptoms in rare diseases

摘要

Monogenic diseases are rare disorders that are typically inherited in classic Mendelian fashion. In recent years, the number of known such diseases has increased with the widespread use of next-generation sequencers, and more than 4500 diseases are currently registered in Online Mendelian Inheritance in Man (OMIM, https://omim.org/). With certain monogenic diseases, pa- tients almost always have allergic symptoms, eosinophilia and/or increased serum IgE levels, which are manifestations of a common disease: allergy. Such specific co-morbidities, common in rare dis- eases, have attracted much attention in recent years in drug development.