Analyse épidémiologique des déficits immunitaires primitifs (DIPs) chez les enfants en Algérie

Abstract

Primary immunodeficiencies (PIDs), also referred to as inborn errors of immunity (IEIs), are genetic disorders caused by abnormalities in the development or function of the immune system. They are mainly characterized by recurrent or severe infections, but may also be associated with autoimmune, inflammatory, allergic, or neoplastic manifestations. Advances in immunology and genetics have improved both their understanding and diagnostic approach. This work presents the immunological basis of PIDs, their classification according to the International Union of Immunological Societies (IUIS), their pathophysiological mechanisms, clinical manifestations, and current diagnostic methods, with particular emphasis on the contributions of molecular biology. The results of a previous retrospective epidemiological study conducted in the Algerian population were also analyzed in order to assess the distribution of patients according to age, sex, region, family history, consanguinity, and types of immunodeficiency. The study showed a predominance of combined immunodeficiencies (33.8%) and a male predominance (59.7%). The median age at symptom onset was 8 months, whereas the median age at diagnosis was around 36 months. Parental consanguinity was present in 50.3% of patients, most cases originated from the central region of the country (44.5%), and the overall mortality rate reached 32.7%. These findings highlight the importance of early diagnosis, genetic counseling, and strengthening diagnostic capacities to improve the management of patients with PIDs.