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

Autor:	Marschall K, Hoernes M, Bitzenhofer-Grüber M, Jan Bonhoeffer, Duppenthaler A, Wa, Wuillemin, Rischewski J, Boyman O, Heininger U, Hauser T, Steiner U, Posfay-Barbe K, Seebach J, Recher M, Hess C, Helbling A, Reichenbach J, Pid, Swiss Registry Working Group
Přispěvatelé:	University of Zurich, Reichenbach, J
Rok vydání:	2015
Předmět:	Adult Male Pediatrics medicine.medical_specialty Delayed Diagnosis Databases Factual Immunology 610 Medicine & health Delayed diagnosis Age and gender Agammaglobulinemia medicine Humans Immunology and Allergy University medical Registries Child Immunodeficiency ddc:616 2403 Immunology ddc:618 business.industry Common variable immunodeficiency Original Articles medicine.disease 3. Good health Common Variable Immunodeficiency 10036 Medical Clinic Cohort 10033 Clinic for Immunology 2723 Immunology and Allergy Phagocyte Bactericidal Dysfunction Primary immunodeficiency Female National registry business Switzerland
Zdroj:	Clinical and experimental immunology Europe PubMed Central Clinical and Experimental Immunology, Vol. 182, No 1 (2015) pp. 45-50
ISSN:	1365-2249 0009-9104
DOI:	10.1111/cei.12661
Popis:	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’.
Databáze:	OpenAIRE
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