Job’s syndrom. Case reports

Abstract

Primary immunodeficiencies with impaired humoral link are genetically determined diseases characterized by impaired antibody formation. The article presents information about an orphan disease – hyperimmunoglobulinemia E syndrome (hyper-IgE), or Job’s syndrome, which is characterized by elevated IgE levels in the blood serum, recurrent infections and various clinical manifestations (specific abnormalities of connective tissue, skeleton, tooth enamel, neurological disorders, etc.). Historical aspects of Job’s syndrome are described, the importance of immunoglobulins E in the human immune system is shown. It is noted that genetic testing, including sequencing of the STAT3 and DOCK8 genes, plays a decisive role in confirming the diagnosis. Low prevalence of Job’s syndrome is the reason for late diagnosis. Clinical cases of Job’s syndrome, a variant of primary immunodeficiency confirmed genetically, are presented.