Quality of life and health determinants in children with congenital immune defects

The quality of life of patients with congenital defects of immunity has become a subject of close attention in clinical practice. Children with primary immunodeficiencies experience substantial limitations in daily activities and require comprehensive care provided by a multidisciplinary team.

Objective. Assessment of quality of life profiles in children with congenital defects of immunity.

Materials and methods. A total of 68 children aged 2–18 years with congenital defects of immunity were enrolled in the study, including with combined immunodeficiencies (11.8 %), syndromic immunodeficiencies (33.9 %), predominantly antibody deficiencies (13.2 %), phagocytic disorders (14.7 %), hereditary angioedema (11.8 %), immune dysregulation disorders (7.3 %), and unclassified immunodeficiency (7.3 %). PedsQL 4.0 questionnaires were filled out by 50 children and 68 parents. A study of the physical, emotional, social, school, and psychosocial domains of quality of life was performed.

Results. Children with syndromic immunodeficiencies bear the greatest burden of the disease. In this group of patients, there are combined defects: delay in physical development, neurological and cognitive deficits, motor disorders and oncological diseases (p < 0.001–0.019). There is a decrease in the quality of life in all areas — physical activity, communication, school/kindergarten performance, psychosocial functioning. Patients with combined immunodeficiencies have satisfactory quality of life indicators, which is associated with the positive effect of hematopoietic stem cell transplantation. In groups with a high overall quality of life score (antibody defects, hereditary angioedema), satisfactory indicators of communication and physical activity are noted. The point of vulnerability in children with antibody defects is functioning in school / kindergarten, in patients with hereditary angioedema — a low emotional state. In the group with undifferentiated immunodeficiencies, a decrease in emotional state is observed.

Conclusion. The quality of life of children with primary immunodeficiencies depends on the type of immunological defect. The study results indicate the need to move from standard to personalized rehabilitation programs taking into account the vulnerability profiles of each category of patients.

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