A rare form of immunodeficiency condition: Roifman syndrome

Roifman syndrome is a rare hereditary disease characterized by a defect in the humoral link of immunity, spondyloepiphyseal dysplasia, stunted growth and intellectual development, as well as retinal dystrophy. Roifman syndrome was first described in 1999, and in 2015 pathogenic mutations in the RNU4ATAC gene associated with Roifman syndrome, Taybi–Linder syndrome (TALS), or primary osteodysplastic dwarfism with type 1 microcephaly (MOPD1), and Lowry–Wood syndrome (LWS) were identified. Clinical manifestations of Roifman syndrome include microcephaly, a narrow nasal bridge, growth retardation and immunological disorders leading to frequent respiratory infections and a decrease in quality of life. The prognosis for children with this disease is more favorable compared to other RNU4ATAC-opathies, such as MOPD1. The article describes a clinical case demonstrating a long-term diagnostic path to diagnosis verification and the importance of early diagnosis of rare forms of immunodeficiency conditions in order to improve the quality of life of children. From an early age, the patient had characteristic clinical manifestations in the form of phenotypic features and multiple organ complaints. The child was observed for a long time by specialist doctors with various nosological forms. Despite treatment, no improvement was observed, and complaints increased. Sequencing of the complete exome in 2017 did not allow the diagnosis to be verified. However, during a more extensive genetic examination, sequencing of the complete genome in 5 years, in 2022, Roifman syndrome was confirmed. The appearance of previously undescribed mutations and the expansion of DNA diagnostic methods made it possible to verify the diagnosis and initiate substitution therapy in order to improve the quality of life.