Common variable immune deficiency in clinical practice

Abstract

Primary immunodeficiencies are rare but severe diseases. Out of all primary immunodeficiencies, most commonly diagnosed conditions belong to the group of common variable immune deficiencies. According to criteria of European Society for Immunodeficiencies (ESID) the diagnosis of common variable immune deficiency is extremely likely at considerable decrease (over 2 standard deviation values compared to median value) of two or three main isotypes of immunoglobulins (classes A, G, M). The mean prevalence of variable immune deficiency in general population ranges from 1:50 000 to 1:70 000. This disease has two age peaks of onset: the first peak is between the age of 6 and 10 years; the second peak - between the age of 26-30 years. Moreover, before the disease onset patients are considered as healthy. The range of clinical manifestations, which may help to suspect common variable immune deficiency, is very wide: some patients have repeated pneumonia, others have thrombocytopenic purpura, autoimmune hemolytic anemia or colitis. Low prevalence of primary immunodeficiency in population, a variety of its clinical forms, insufficient awareness of practical doctors dictate the need for detailed description of this pathology on a clinical example. The article presents a case of firstly diagnosed case of common variable immune deficiency in a 26 years old female. Issues of epidemiology, etiology, pathogenesis, clinical symptoms and diagnosis of this disease are described. It is necessary to draw the attention of doctors of various specialties to the fact that changes in the immune system, up to hereditary, genetically determined immunodeficiencies can often be the cause of recurrent inflammatory processes of different localization with a low response to conventional therapy.