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Primary immunodeficiency registries.

Viviane Knerr1, Bodo Grimbacher

  • 1Department of Immunology & Molecular Pathology, University College London, Royal Free Hospital, London, UK.

Current Opinion in Allergy and Clinical Immunology
|November 9, 2007
PubMed
Summary
This summary is machine-generated.

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Patient registries are crucial for rare disease research, particularly primary immunodeficiencies, by aggregating patient data. These databases facilitate national and international studies, though curation challenges persist.

Area of Science:

  • Rare disease research
  • Immunology
  • Biomedical informatics

Background:

  • Rare diseases like primary immunodeficiencies require large patient cohorts for effective research.
  • Patient registries are essential for collecting longitudinal data and connecting research centers.
  • This review examines publications on database systems and research utilizing registry data.

Purpose of the Study:

  • To review recent publications on patient database systems for rare diseases.
  • To highlight research conducted using data from these databases.
  • To discuss the role of national and international registries in advancing rare disease research.

Main Methods:

  • Literature review of recent publications on database systems.
  • Inclusion of relevant older publications on national registries.

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  • Analysis of research findings derived from patient registry data.

    • Main Results:

    • Established patient databases contain substantial data for primary immunodeficiency research.
    • Database curation faces challenges due to limited time, funding, and manpower.
    • Several national databases have yielded significant research outcomes.

    Conclusions:

    • National and international patient databases are poised to support diverse studies.
    • Global accessibility of mutation data via the internet is a key development.
    • The reviewed database systems and their research applications are presented.