부산대학교 도서관

Background. Assignment of causes of generalized lymphadenopathy causes as a symptom of various diseases is still challenging. In case of no infectious causes, the morphological study is necessary also to exclude sarcoidosis, rare for young children immunemediated systemic disease with intermediate prognosis.Clinical case description. 4 years girl was diagnosed sarcoidosis with typical lesions of intrathoracic lymph nodes and lungs along with signs of generalized lymphadenopathy. Molecular genetic testing has revealed pathogenic variant in the TNFRSF13B gene that was previously described in adult patients with general variable immunodeficiency and pulmonary sarcoidosis. Catamnestic follow-up data on this patient are presented for 3 years. There were no relapses without immunosuppressive therapy.Conclusion. Sarcoidosis was described as the cause of generalized lymphadenopathy in preschool child. Following the federal guidelines has helped to adjust diagnosis tactics, to establish diagnosis, and to choose treatment.