SOPH syndrome (SOPH; MIM# 614800) is a rare hereditary monogenic disease caused by a mutation in the NBAS gene. The clinical spectrum of this disease affects many symptoms such as skeletal dysplasia, atrophy of the optic nerves, Pelger's leukocyte abnormality. While the somatic manifestations of this disease are known and the genetic cause has been identified, the involvement of immunological disorders in the pathogenesis of the disease remains unknown. Also, mutations in the NBAS gene are the cause of isolated recurrent liver failure, precipitated by infantile liver failure syndrome 2 (ILFS2; MIM#616483) and other combined phenotypes. Аn analysis of the immunological status of patients with SOPH syndrome was carried out in order to detect disorders in cellular and humoral immunity. A significant decrease in the level of immunoglobulins (IgA, IgM, IgG, IgE) and the level of NK cells was found. These studies will help in the future to establish a reliable pathogenesis of the disease and to find approaches to the treatment of patients with disorders in the NBAS gene.
Since the first report of SOPH syndrome among the Yakut population in 2010, new clinical data of SOPH-like conditions continue to appear. We expand the phenotypic spectrum of SOPH syndrome and perform a comparative analysis of Yakut SOPH patients' clinical data with SOPH-like conditions reported in the world scientific literature to form a foundation for NBAS pathogenesis discussion. Clinical data from the genetic records of 93 patients with SOPH syndrome and global survey data on patients with pathogenic variants of the C-terminal in the NBAS gene were collected.A detailed phenotype description of patients is presented with a total number of 111 individuals. Underweight below the fifth centile and prone to delayed bone age in Yakut SOPH patients are retrospectively observed. We outline the short stature with optic atrophy as the leading phenotyping trait for C-terminal NBAS patients. The pathophysiology and patients management of SOPH-like conditions are discussed.
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