According to Jolles [23], recurrent bacterial respiratory tract infections occurred in 90% of patients with CVID, and the most common diagnoses were pneumonia and sinusitis (over 70% of patients)

According to Jolles [23], recurrent bacterial respiratory tract infections occurred in 90% of patients with CVID, and the most common diagnoses were pneumonia and sinusitis (over 70% of patients). which was shorter in children than in adults. In the presented group, the infectious phenotype (pneumonia, sinusitis) was dominant. Autoimmune and allergic diseases, malignant tumours and enteropathies have also been observed. == Conclusions == The diagnostic delay is still too long, especially in adults, which can lead to serious and irreversible complications. Early diagnosis and appropriate treatment with intravenous and subcutaneous immunoglobulins reduces the frequency of infections and their potential complications. Keywords:immunodeficiency, clinical course, diagnosis, treatment, immunoglobulins == Introduction == Variable common immunodeficiency (CVID) is a primary, humoral immunodeficiency with a very diverse clinical picture. As knowledge about primary immunodeficiency (PID) Acipimox advances, individual diseases, including CVID, are diagnosed more effectively. Currently, the incidence is estimated at 1 : 25,000 [13]. According to the definition, diagnosis of CVID is possible > 4 years of age, although its clinical symptoms may appear earlier. The first peak of incidence is observed in the 1stdecade of life, the second in the 2ndand 3rddecades of life [4,5]. The incidence of CVID is influenced by environmental, epigenetic and genetic factors. So far, this deficiency has been associated with mutations in 13 genes, and the most common mutation concerned the TNFRSF13B (TACI) gene [3,68]. Direct sequencing of genes associated with CVID allows the determination of the genetic basis in a small percentage of patients (310%). The increasing use of the Next Generation Sequencing (NGS) tests in patients with CVID causes the molecular basis to be found much more often [8]. The following monogenic disease entities are distinguished, e.g., activated PI3K delta syndrome (APDS) or autoimmune lymphoproliferative syndrome (ALPS), which have a phenotype similar to CVID, but require a different therapeutic approach, e.g. specific biological therapy or stem cell transplantation [1,5,812]. The clinical picture of CVID includes an infectious phenotype with a rich course and various aetiology of infections, an autoimmune and allergic phenotype, as well as a strong tendency to non-malignant lymphoproliferation and the occurrence of neoplastic diseases, especially lymphomas and gastric cancer [3,5,6,1215]. Most often, patients display mixed phenotypes, with a varied combination of symptoms and comorbidities. This hinders and delays the correct diagnosis. The lack of diagnosis results in the lack of appropriate treatment, which often translates into irreversible infectious and non-infectious complications [2,1214,1618]. In addition to promoting knowledge on CVID, it is important to use appropriate diagnostic criteria to diagnose this immunodeficiency. At present, physicians follow the diagnostic criteria developed by the ESID (European Society for Immunodeficiencies) [4,5,12,19,20]. The last update Acipimox of the ESID criteria took place in 2016 [20]. They are presented inTable 1. == Table 1. == CVID criteria according Rabbit polyclonal to WWOX to the ESID guidelines. So far, CVID has been diagnosed as probable or possible according to the ESID criteria [20]. In 2016, these criteria were updated. At the moment CVID can be diagnosed in the following situations == Aim == Due to the fact that CVID is a great challenge for physicians, we present our own experience in terms of diagnosis and treatment of these patients. == Material and methods == The study included 14 Acipimox patients with a clinical and laboratory CVID phenotype, aged 5 to 58 years. The study group was dominated by children (10 patients, 71.4%). Before 2016, 4 (28.6%) adults were diagnosed at the Immunology Clinic for Children, when there was no clinic for adults in the Kujawsko-Pomorskie Voivodeship. Based on the ESID criteria [20], CVID was diagnosed in patients after 2016, and the previous diagnosis was verified. According to the ESID guidelines, in the differential diagnosis process of CVID, the secondary hypogammaglobulinemia was excluded. A detailed medical history was taken and a physical examination was performed in each patient. Particular attention was paid to the presence of symptoms and diseases accompanying PID as well as their complications. The Acipimox time from the onset of the first symptoms of CVID to the time of correct diagnosis (the diagnostic delay) was.