The Swiss National Registry for Primary Immunodeficiencies: report on the first 6 years' activity from 2008 to 2014.
- Marschall K Division of Immunology, University Children's Hospital Zurich and Children's Research Centre, University Zurich, Zurich.
- Hoernes M Division of Immunology, University Children's Hospital Zurich and Children's Research Centre, University Zurich, Zurich.
- Bitzenhofer-Grüber M Division of Allergology, University Hospital Berne, Berne.
- Jandus P Division of Immunology and Allergology, University Hospital Geneva, Geneva.
- Duppenthaler A Division of Infectious Diseases, University Children's Hospital Berne, Berne.
- Wuillemin WA Division of Haematology and Central Haematology Laboratory, Luzerner Kantonsspital and University of Berne, Berne.
- Rischewski J Division of Oncology/Haematology, Children's Hospital Lucerne, Lucerne.
- Boyman O Division of Immunology, University Hospital Zurich, Zurich.
- Heininger U Division of Infectious Diseases, University Children's Hospital Basel.
- Hauser T IZZ Immunology-Zentrum Zürich, Zurich.
- Steiner U Division of Immunology and Allergology, Spital Tiefenau Berne, Berne.
- Posfay-Barbe K Division of Immunology, University Children's Hospital Geneva, Geneva.
- Seebach J Division of Immunology and Allergology, University Hospital Geneva, Geneva.
- Recher M Immunodeficiency Clinic, Medical Outpatient Unit and Immunodeficiency Laboratory, Department of Biomedicine, University Hospital Basel, Basel, Switzerland.
- Hess C Immunodeficiency Clinic, Medical Outpatient Unit and Immunodeficiency Laboratory, Department of Biomedicine, University Hospital Basel, Basel, Switzerland.
- Helbling A Division of Allergology, University Hospital Berne, Berne.
- Reichenbach J Division of Immunology, University Children's Hospital Zurich and Children's Research Centre, University Zurich, Zurich.
- 2015-06-03
Published in:
- Clinical and experimental immunology. - 2015
common variable immunodeficiency (CVID)
hypogammaglobulinaemia
patient registry
phagocyte defects
primary immunodeficiency
Adult
Agammaglobulinemia
Child
Common Variable Immunodeficiency
Databases, Factual
Delayed Diagnosis
Female
Humans
Male
Phagocyte Bactericidal Dysfunction
Registries
Switzerland
English
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'.
- Language
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- English
- Open access status
- bronze
- Identifiers
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- DOI 10.1111/cei.12661
- PMID 26031847
- Persistent URL
- https://folia.unifr.ch/global/documents/2690
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