PIDLA Primary ImmunoDeficiency Look-up App
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About PIDLA
Primary immunodeficiencies are a rapidly growing group of innate errors of the immunity which may manifest as not only increased susceptibility to infections, but a host of other clinical symptoms, and may feature a wide array or laboratory findings.
The latest IUIS (International Union of Immunological Societies) classification published in January 2020 lists 452 distinct disorders, each with a unique set of clinical and laboratory characteristics caused by a unique genetic variant.
With such a vast number of distinct diseases, clinicians usually utilize a step-wise diagnostic approach, starting with clinical examination of the patient, analysis of the patient’s medical history, and then laboratory tests of gradually increasing specificity as they home in on a group of most likely candidate diseases. While next generation sequencing of whole patient exome or a list of candidate genes has become increasingly affordable, it is not universally available and may be time-consuming.
We have therefore created an electronic database of all 452 disorders listed in the IUIS classification and created a specialized user interface and searching & ranking algorithm which will allow clinicians to use information already available to them (both laboratory and clinical), however limited it may be, and search the IUIS list of PIDs for most matching disease candidates. The list provided to them should then allow for a more focused, economical and ethical diagnostic work-up.
This project was made possible thanks the public availability of the IUIS classification table (available in its original form from here and financial support from the University Hospital in Motol, Prague, Czech Republic.
The suggestions provided by PIDLA are NOT definite diagnoses, but only differential diagnostic suggestions and do NOT replace the judgement of a patient's attending physician.
Conceived, curated and developed by
- Adam Klocperk, MD, PhD
- Ing. Jakub Horák
- Mgr. Jan Krupička
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