Inborn errors of immunity (IEI) are chronic conditions requiring complex management. Therapeutic education is essential for optimizing patient care, improving adherence, and preventing complications. This study aimed to assess the level of knowledge patients with IEI have about their disease.
A descriptive and analytical cross-sectional study was conducted at the Pediatric Department of the National Bone Marrow Transplant Center (CNGMO) in Tunisia. It included 34 patients under 18 years old receiving immunoglobulin replacement therapy. A questionnaire, available in French and Arabic, was administered to parents for children under 10 years (n = 8) and directly to patients aged 10 years or older (n = 26). The questionnaire contained 25 hetero-administered questions covering disease awareness, treatments, adherence, and complications, with scores graded out of 20.
Thirty-four patients (16 boys and 18 girls) were included, with a mean age of 9.3 ± 5.3 years (1-18). The mean follow-up duration at CNGMO was 5 ± 4 years (1-15). IEI types included ataxia-telangiectasia syndrome (n = 4), combined or severe combined immunodeficiency (n = 9), antibody deficiency (n = 20), and Wiskott-Aldrich syndrome (n = 1). The mean knowledge score was 12.16 (range: 8-17). Six patients (17.6%) scored below 10/20, 21 (61.8%), between 10 and 14, and 7 (20.6%) above 14. A significant correlation was found between a score >14/20 and a follow-up duration >1 year (p = 0.044). Patients with ataxia-telangiectasia syndrome had significantly lower scores (<10/20), while those with antibody deficiency scored >10/20 (p = 0.023). Parents demonstrated significantly better knowledge than patients, particularly regarding treatments, adherence, and complications.
Therapeutic education plays a crucial role in helping patients manage their disease, prevent complications, and improve their quality of life, ultimately fostering autonomy.
