Warning signs of primary immunodeficiencies: is there any benefits?

Abstract

Primary immunodeficiencies is a group of diseases resulting from a variety of genetic defects. At the moment, more than 300 immunodeficiencies are known, most of which negatively affect the quality and duration of life, leading to deaths in the first year of a child's life. The most severe and at the same time quite frequent are defects in cellular immunity. It is currently known that the incidence of clinically significant T lymphopenias is 1: 4000 live newborns, and the incidence of clinically significant cellular primary immunodeficiencies is 1: 10000 live newborns. Despite the extensive treatment options for these diseases, patient survival is low. This is a consequence of the delayed setting of the correct diagnosis and, accordingly, the beginning of adequate therapy. Early detection of primary immunodeficiencies is a key factor in the successful treatment of patients with these diseases. Despite the fact that clinical warning signs were formulated more than 25 years ago, and their promotion is incredibly successful, the correct diagnosis is delayed for most immunodeficient patients by years. This situation is a consequence of an extremely wide range of clinical manifestations of immunodeficiencies. At the moment, there are several lists of warning signs. There is also an approach in which alarming clinical signs are formulated separately for different specialists. All of these lists are the result of attempts to increase the sensitivity and specificity of this instrument. These attempts each time turned out to be unsuccessful, since they slightly increased its effectiveness. The work of immunologists from Great Britain, Germany, Egypt, USA showed that it is almost impossible to formulate a list of warning signs from only clinical and anamnestic indicators. Apparently, it is necessary to add screening laboratory techniques.

Keywords

• primary immunodeficiencies
• warning signs
• efficacy