A case of primary immunodeficiency with immune dysregulation: features of clinical manifestation and diagnostic difficulties

Abstract

The article describes a case of a rare primary immunodeficiency with immune dysregulation — CD25 deficiency with manifestation in the neonatal period in the form of severe chronic diarrhea, susceptibility to viral, bacterial, and fungal infections, autoimmune manifestations, malabsorption syndrome, hypotrophy, skin lesions, confirmed by a homozygous mutation in the IL2-RA gene detected by DNA analysis. The article discusses the role of IL2-RA in the maturation and differentiation of T-lymphocytes, modern approaches to the classification of primary immunodeficiencies with immune dysregulation, principles of diagnosis and treatment of CD25 deficiency, as well as analyzes and compares other cases of CD25 deficiency described in the literature.