A case of Nijmegen syndrome in a child with frequent relapses of a respiratory infection

The article provides clinical dynamic observation of a child with a primary immunodeficiency state, presents the stages of the differential diagnostic search for congenital genetic pathology. Nijmegen syndrome is an autosomal recessive disease caused by a mutation of the NBN gene, characterized by microcephaly, “Bird” facial features, delayed physical development, immunodeficiency, congenital malformations, increased sensitivity to x-ray radiation and a high susceptibility to cancer. This syndrome is relevant for Russian pediatricians due to the high frequency of carriage of the “Slavic” NBN gene mutation among the population of the Russian Federation. The presented clinical observation describes a patient with characteristic phenotypic features, frequent episodes of acute respiratory viral infections (up to 8 times a year) with the addition of a bacterial infection, fever up to febrile numbers. The duration of verification of the immunodeficiency state was 5 years. Despite the complicated course of infectious diseases, the general well-being of the child did not suffer significantly, the level of neuropsychic development corresponded to age. The diagnosis of Nijmegen’s syndrome was made on the basis of characteristic phenotypic features, anamnesis, and laboratory data, instrumental studies and confirmed by the results of molecular genetic analysis.