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Diagnosis of the primary immunodeficiencies

Publication at Second Faculty of Medicine |
2014

Abstract

Laboratory diagnosis of primary immunodeficiency (PID) is an integral part of the evaluation of a patient with suspected immunodeficiency and is irreplaceable in the diagnostic procedure. Using the laboratory results according to the clinical status, we can confirm most units PID; based on the molecular-genetic tests the diagnosis they could be uniquely determined.

The recurrent or severe infections or wrong answer to the appropriate anti-infective therapy, and also other symptoms mentioned in the chapters concerning the clinical manifestations PID, are the main reason for the laboratory tests. Type of laboratory tests and their pointing choice (which part of the immune system has to be investigated) is based on a detailed personal and familial history and on the results of the clinical and complementary investigations (eg.

Imaging).