Primary immunodeficiency registries

Abstract

Purpose of review: Research in the field of rare diseases such as primary immunodeficiencies can be significantly improved with sufficient patient numbers. Patient registries can help provide the basis for this by collecting data over a longer period of time and by connecting centres nationally or even internationally. The present article reviews recent publications both on database systems themselves and the research performed using results from these databases. The review also includes older publications on national registries that are considered relevant for the topic.

Recent findings: Databases that have been set up during past years and decade(s) now include a wealth of data for research on different primary immunodeficiencies and can be queried for studies. Database curation, however, remains an issue in most cases. A lack of time, funding and manpower is the main hurdle to be overcome by curators and participating centres

Summary: Several national databases have already produced results. The international patient databases are also ready to launch studies on multiple topics, while mutation data are accessible worldwide through the Internet. The present review introduces database systems as well as results obtained on this basis.