Clinical Manifestations in the Patients with Primary Immunodeficiencies: Data from One Regional Center

Introduction: Defining clinical signs is very important for timely diagnosis of diseases, as well as primary immunodeficiencies (PID). The aim of our study was to identify manifestations and their specific features in the patients of Ternopil region, Ukraine, in order to improve early detection of primary immunodeficiencies. Materials and Methods: This retrospective and prospective study involved 36 patients with primary immunodeficiencies, whose clinical symptoms were followed up from the disease onset. A prospective analysis was performed for 26 patients, while retrospective analysis based on the review of medical records was conducted for 10 patients. Results: Combined immunodeficiencies with associated or syndromic features such as Nijmegen breakage syndrome, 22q11.2 deletion syndrome, ataxia-teleangiectasia, were diagnosed the most frequently and followed by antibody deficiencies. The mean delay from initial symptoms to diagnosis was 31.5 months, and ranging from one to 156 months. Recurrent bacterial respiratory tract infections were evidenced in 61.1% of patients, recurrent viral respiratory infections-in 44.4% of patients. Skin infections were reported in 25.0% of all cases. Allergies were present in 11.1% and autoimmune diseases in 16.7% of all patients; malignancy was revealed in one case. Conclusions: Infections were the most prominent clinical manisfestation PIDs, although more than 30% of the children have had PID manifestations accompanied by autoimmune disorders, allergies, or malignancies. Taking into account regional features of the PID incidence, more attention should be given to the clinical signs of microcephaly, ataxia, teleangiectasia and congenital heart defects in PID diagnosis. Lymphopenia and characteristic dysmorphic features are also warning signs for PID in the neonatal period and early infancy.