Abstract
The field of primary immunodeficiencies is currently undergoing significant developments, enabled especially by increased availability of new methods of exact genetic diagnostics of these congenital diseases. The quickly growing list of primary immunodeficiencies now contains more than 250 entries.
Some formerly ill defined diseases are now getting updated definitions, like for example the common variable immunodeficiency (CVID). Whole new categories of diseases are now being categorised as primary immunodeficiencies, like increased sensitivity to infections or autoinflammatory syndromes.
Functional tests, accompanying new sequencing methods, surprisingly revealed immunodeficiencies caused by mutations of the ""gain of function"" type, which require immunosuppressive strategies to restore the balance in the immune system. There is also a new approach for the most severe forms of immunodeficiencies, severe combined immunodeficiencies (SCID), where new testing methods enabled launching screening programmes, in USA so far, but reaching Europe and Czech Republic as well.
This short article introduces these new findings in the field of primary immunodeficiencies and shows the possibilities in this field in the Czech Republic