X-linked agammaglobulinemia (XLA), or Bruton’s agammaglobulinemia, – is a primary immunodeficiency, caused by defects in the BTK gene encoding Bruton’s tyrosine kinase. The BTK defects lead to the arrest of B-lymphocyte development and, as a result, agammaglobulinemia. The disease manifests with recurrent infections starting in infancy. The gold standard of XLA treatment – intravenous or subcutaneous immunoglobulin substitution – proved effective in various multicenter studies and increases the quality of life of XLA patients. However, there are cases of delayed disease verification, and untimely delayed treatment, which leads to severe, recurrent infections and life-threatening conditions. We present a review of the literature and case report of an XLA patient with ecthyma gangrenosum. The patient's parents gave consent to the use of their child's data, including photographs, for research purposes and in publications.
Primary immunodeficiencies (PID) are genetically determined defects of the immune system. Despite significant advances in diagnosis and treatment of this group of disorders, personalized rehabilitation therapy aimed at improving the quality of a patient’s life (QOL) is not standardized. Our study of the rehabilitation effectiveness in a group of PID patients (n = 78; 59 boys and 19 girls), treated at the Russkoe Pole Rehabilitation Center, demonstrated significant improvement of the QOL in all aspects. The total QOL scale score increased from 66.13 to 74.89 points according to a child form and from 65.37 to 70.86 points according to a parent form. The greatest improvement in the QOL was achieved in children under 12 years of age, with an increase in the total scale score from 63.22 to 74.95 points (child form), and from 63.24 to 71.34 points (parent form). Therefore, personalized rehabilitation therapy can improve the QOL of patients with PID and can be applied in various rehabilitation centers. The study was approved by the Independent Ethics Committee and the Scientific Council of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation.
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.
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