Variability of clinical manifestations in the child with Roifman syndrome

Introduction. Roifman syndrome is a rare hereditary autosomal recessive disease, often associated with primary immunodeficiency and spondyloepiphyseal dysplasia. The cause of the disease is a splicing disorder due to a mutation of the RNU4ATAC gene with the formation of an incorrect protein structure, which in turn leads to clinical polymorphism. Purpose: demonstration of own clinical observation of the 5-year girl with Roifman syndrome. Materials and methods. An analysis of the literature on the stigmas of dysembriogenesis, clinical manifestations, changes in the immune system that determine the formation of Roifman syndrome was carried out. Results. The features of the course and variability of manifestations in the particular patient with Roifman syndrome are described. The variety and non-specificity of clinical symptoms in Roifman syndrome in the 5-year girl is shown. Timely diagnosis after complete sequencing by Sanger made it possible to identify a complex heterozygous mutation in the RNU4ATAC gene and start adequate therapy.