The European internet-based patient and research database for primary immunodeficiencies: results 2004-06

Abstract

Because primary immunodeficiencies (PID) are rare diseases, transnational studies are essential to maximize the scientific outcome and lead to improved diagnosis and therapy. Immunologists in Europe have united to determine the prevalence of PID in Europe and to establish and evaluate harmonized guidelines for the diagnosis and treatment of PID as well as to improve the awareness of PID in Europe. In order to achieve this aim we have developed an internet-based database for clinical and research data on patients with PID. This database forms the platform for studies of demographics, the development of new diagnostic and therapeutic strategies and the identification of novel disease-associated genes. The database is completely secure, while providing access to researchers via a standard browser using password and encrypted log-in sessions and conforms to all European and national ethics and data protection guidelines. So far 2386 patients have been documented by 35 documenting centres in 20 countries. Common variable immunodeficiency (CVID) is the most common entity, accounting for almost 30% of all entries. First statistical analyses on the quality of life of patients show the advantages of immunoglobulin replacement therapy, at the same time revealing a mean diagnostic delay of over 4 years. First studies on specific questions on selected PID are now under way. The platform of this database can be used for any type of medical condition.

Fig. 1

Distribution of patients in the database by country. The numbers above the columns are absolute patient numbers.

Fig. 2

Distribution of entries in the European Society for Immunodeficiencies (ESID) online database by main primary immunodeficiencies (PID) category.

Fig. 3

Age distribution of patients registered in the European Society for Immunodeficiencies (ESID) online database.

Fig. 4

Average age at death of patients from selected subcategories and diseases from the European Society for Immunodeficiencies (ESID) online database. The absolute number of patients is given in brackets.

Fig. 5

Median and mean diagnostic delay for patients with data entered in the relevant fields from selected subcategories and diseases from the European Society for Immunodeficiencies (ESID) online database. Numbers of patients are given in brackets. Definition of fields in the database: ‘Date of diagnosis’: the date on which all ESID criteria for the respective diagnosis have been fulfilled and the diagnosis was verified by a physician ‘Onset of symptoms’: the date of first severe infection or characteristic manifestation of the primary immunodeficiency.