The Swiss National Registry for Primary Immunodeficiencies: report on the first 6 years’ activity from 2008 to 2014

Abstract

Summary The Swiss National Registry for Primary Immunodeficiency Disorders (PID) was established in 2008, constituting a nationwide network of paediatric and adult departments involved in the care of patients with PID at university medical centres, affiliated teaching hospitals and medical institutions. The registry collects anonymized clinical and genetic information on PID patients and is set up within the framework of the European database for PID, run by the European Society of Immunodeficiency Diseases. To date, a total of 348 patients are registered in Switzerland, indicating an estimated minimal prevalence of 4·2 patients per 100 000 inhabitants. Distribution of different PID categories, age and gender are similar to the European cohort of currently 19 091 registered patients: ‘predominantly antibody disorders’ are the most common diseases observed (n = 217/348, 62%), followed by ‘phagocytic disorders’ (n = 31/348, 9%). As expected, ‘predominantly antibody disorders’ are more prevalent in adults than in children (78 versus 31%). Within this category, ‘common variable immunodeficiency disorder’ (CVID) is the most prevalent PID (n = 98/217, 45%), followed by ‘other hypogammaglobulinaemias’ (i.e. a group of non‐classified hypogammaglobulinaemias) (n = 54/217, 25%). Among ‘phagocytic disorders’, ‘chronic granulomatous disease’ is the most prevalent PID (n = 27/31, 87%). The diagnostic delay between onset of symptoms and diagnosis is high, with a median of 6 years for CVID and more than 3 years for ‘other hypogammaglobulinaemias’.

Comprehensive activities to increase recognition of primary immunodeficiency and access to immunoglobulin replacement therapy in Poland

“…In other European countries, the prevalence varies from 4.2/100,000 in Switzerland, 3.6 in Spain, 2.8 in Turkey, 2.6 in Netherlands, 1.839 in the UK to 1.786 in Italy. Overall, these data differ from the estimation of 83 per 100,000 inhabitants made in a US-based phone survey [5,8,12,16,19,21]. The experience of national registries in France, Spain, or Germany indicates the important role of cooperation in the registry and the impact of reporting patients to ESID database.…”

“…Following the latest European Society for Immunodeficiencies (ESID) [www.esid.com] and national reports, the minimal prevalence varies from 6.058/100,000 in France, 4.2 in Switzerland, 2.105 in Germany, and 1.33 in Poland. In the USA and Australia, prevalence is reported as 10.3/100,000 and 12.4/100,000, respectively [8,17,20,21]. A lot of effort has been done to improve knowledge on epidemiology and diagnostic and therapeutic problems in immunodeficient patients.…”

Autoimmune Cytopenias and Associated Conditions in CVID: a Report From the USIDNET Registry

“…In addition to frequent infections, subjects with CVID may also develop non-infectious complications, including interstitial lung and/or gastrointestinal inflammatory disease, hematologic or organ-specific autoimmunity, lymphoproliferation, and in some cases, lymphoma [3–6]. Partly, as a consequence of its diverse manifestations and rather late onset, diagnostic delays in CVID are common, with a median time to diagnosis of 4 to 6 years [6, 7]. With the advent of immunoglobulin (Ig) therapy, non-infectious complications have become important causes of death and disability in CVID.…”

B‐cell receptor repertoire sequencing in patients with primary immunodeficiency: a review

“…). Predominantly antibody disorders (PAD) are by far the most common form of PID and are characterized by an isolated or predominant B‐cell defect without evidence of profound T‐cell deficiency . Combined immunodeficiencies (CID) are primarily T‐cell disorders which affect both the B‐ and T‐cell systems and vary in terms of the severity of clinical phenotype .…”

“…PIDs are a heterogeneous group of conditions, some of which will cause little problem, and others with the potential for severe manifestations such as invasive infections. Disorders affecting antibody production account for the majority of registered PIDs . These defects are diagnosed using a combination of clinical features and laboratory immunology testing, which usually includes the assessment of total and specific immunoglobulin concentrations .…”