ВЗК-ПОДОБНЫЕ ПОРАЖЕНИЯ У ПАЦИЕНТОВ С Х-СЦЕПЛЕННОЙ АГАММАГЛОБУЛИНЕМИЕЙ: ОБЗОР ЛИТЕРАТУРЫ И КЛИНИЧЕСКОЕ НАБЛЮДЕНИЕ

Abstract

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency that refers to defects in the humoral link and is characterized by severe recurrent infectious episodes as well as low concentration of serum immunoglobulins up to their complete absence. BTK (Bruton tyrosine kinase), a protein coding gene is responsible for this disease, whose mutations lead to impaired maturation of B-lymphocytes followed by a defect in antibody production. The survival rate of patients with early diagnosis and timely replacement therapy with intravenous (IVIG) and subcutaneous (SCIG) immunoglobulins is quite high. Though patients in this group are predisposed to immune complications such as IBD-like lesions of the gastrointestinal tract (GIT) in addition to recurrent infectious episodes. The differentiation of such complications if often of diagnostic and therapeutic difficulties. This group of patients is being actively studied at the moment aimed to the search for therapeutic options. The Article represents a bibliographical review and clinical case of the development of IBD-like lesions of the GIT in a patient with XLA.