Ten signs to recognize primary immunodeficiencies

Primary immunodeficiency diseases are hereditary disorders of development and function of the immune system. About 200 different forms of primary immunodeficiency are currently known and about 150 mutations have been defined. The incidence is about 10 per 100 000 live births. A significantly higher incidence is Plaid in the populations with a high rate of consanguinity, as well as in geographically isolated populations. The clinical picture is defined by recurrent, severe infections and infections with opportunistic pathogens. Depending on the part of the immune system affected, there are certain causes of infections. Some PIDs are characterized by immune dysregulation, whereas in some syndromes immunity disorders are only one part of the clinical picture. Patients with immunodeficiency often suffer from autoimmune and malignant diseases. The number of diagnosed patients is less than the expected incidence, particularly in some areas. Thus, education of pediatricians and general practitioners, as well as public health measures will improve the diagnosis of these diseases. Although rare, PIDs remain undiagnosed, or arc diagnosed after the occurrence of complications, which cannot be successfully treated. Early diagnosis and treatment of patients with primary immunodeficiency are important to prevent the development of complications and improve the patient quality of life. Therefore, an increased effort is needed both in early diagnosis of primary immunodeficiency and in arising awareness of these diseases in the society. In recent years, considerable progress in the diagnosis, including definition of disorder at the molecular level has been made. All thus' makes the treatment and cure of many patients with primary immunodeficiency successful. Transplantation of hematopoietic stem cells is a routine procedure in the treatment of patients with primary immunodeficiency in many centers. Remarkable progress has been made in finding unrelated matched donors. Defining the disorder at the molecular level has enabled genetic. treatment for some types of primary immunodeficiency.