The European internet-based patient and research database for primary immunodeficiencies: results 2006–2008

Abstract

SummaryPrimary immunodeficiencies (PID) are rare diseases; therefore transnational studies are essential to maximize the scientific outcome and to improve diagnosis and therapy. In order to estimate the prevalence of PID in Europe as well as to establish and evaluate harmonized guidelines for the diagnosis and treatment of PID, the European Society for Immunodeficiencies (ESID) has developed an internet-based database for clinical and research data on patients with PID. This database is a platform for epidemiological analyses as well as the development of new diagnostic and therapeutic strategies and the identification of novel disease-associated genes. Within 4 years, 7430 patients from 39 countries have been documented in the ESID database. Common variable immunodeficiency (CVID) represents the most common entity, with 1540 patients or 20·7% of all entries, followed by isolated immunoglobulin (Ig)G subclass deficiency (546 patients, 7·4%). Evaluations show that the average life expectancy for PID patients varies from 1 to 49 years (median), depending on the type of PID. The prevalence and incidence of PID remains a key question to be answered. As the registration progress is far from finished we can only calculate minimum values for PID, with e.g. France currently showing a minimum prevalence of 3·72 patients per 100 000 inhabitants. The most frequently documented permanent treatment is immunoglobulin replacement; 2819 patients (42% of all patients alive) currently receive this form of treatment.

Common variable immunodeficiency and idiopathic primary hypogammaglobulinemia: two different conditions within the same disease spectrum

“…1 It is defined by: 1) a marked decrease in serum IgG and IgA or IgM of at least 2 standard deviations (SD) below the mean for age; 2) absent isohemagglutinins and/or poor response to vaccines; 3) onset of immune deficiency after two years of age; and 4) exclusion of other defined causes of hypogammaglobulinemia. 1 Patients with CVID suffer from recurrent infections and non-infectious complications (autoimmune cytopenia, polyclonal lymphocytic proliferation and persistent unexplained enteropathy), of which the latter are associated with increased mortality.…”

“…1 It is defined by: 1) a marked decrease in serum IgG and IgA or IgM of at least 2 standard deviations (SD) below the mean for age; 2) absent isohemagglutinins and/or poor response to vaccines; 3) onset of immune deficiency after two years of age; and 4) exclusion of other defined causes of hypogammaglobulinemia. 1 Patients with CVID suffer from recurrent infections and non-infectious complications (autoimmune cytopenia, polyclonal lymphocytic proliferation and persistent unexplained enteropathy), of which the latter are associated with increased mortality. 2,3 By definition, CVID excludes a group of patients with idiopathic primary hypogammaglobulinemia, who suffer from hypogammaglobulinemia but do not fulfill CVID diagnostic criteria with respect to a reduction of two immunoglobulin isotypes and/or a reduced response to vaccination.…”

Primary immunodeficiency: modern approaches to diagnosis and therapy

“…Как сообщает Международный Союз Иммунологических сообществ (International Union of Immunological Societies) признана связь первичных иммунодефицитов с более чем 270 генами; идентифицировано более 4500 мутаций [16,28]. По данным Европейского Общества по Первичным Иммунодефицитам, частота встречаемости ПИД в среднем составляет 1/25000-1/100000 населения, в то время как селективный дефицит IgA встречается с частотой 1/500-1/700 населения [4,29]. Если сопоставить данные европейских показателей с числом жителей Республики Казахстан, то в настоящее время в нашей стране должно быть не менее 3000 пациентов с врожденным дефектом иммунной системы, при этом, к 2015 году было зарегистрировано34 пациента с ПИД [5].…”

Primary Immunodeficiency Diseases in Latin America: Epidemiology and Perspectives

“…From this date, 24 centers were enrolled in diagnosis, treatment and research, with more than 600 registered patients. In others countries, the online database network make good results in records of PID Guzman et al,;Gathmann et al, 2009)…”

“…These data are important to maintain epidemiological studies and research and design of new clinical trials, reducing mortality, increasing survival and improved quality of life. In Europe, this service is performed by European Society for Immunodeficiency-ESID non-governmental organization that aims, to facilitate exchange of information between doctors, nurses, researchers, patients and their families, promote research into causes, mechanisms and treatment of PID (Sewel et al, 2006;de Vries, 2006;Guzman et al, 2007;Gathmann et al, 2009). This group was established in 1993, Society in 1994, and receives data from 66 specialized centers in 26 European countries.…”