Diagnostic d’un déficit immunitaire primitif de l’enfant

Primary immunodeficiency diseases involve innate and adaptive immunity. In humans, about 150 Mendelian conditions involving impaired immune response have been described. Variable disease expression, even with the same mutation, is commonly observed.Diagnosis is suspected on complete blood cell count, serum immunoglobulin levels and antibody titers to standard immunization antigens in children with increased susceptibility to infections. In other children the gene is expressed outside the hematopoietic lineage and non immune features may prevail.The molecular evaluation of the patients will require more specialized laboratories tests. The management of immunodeficiency disease require antibiotics, nutritional support, intravenous or subcutaneous immune globulins, hematopoietic stem cell transplantation or gene therapy. Finally genetic counselling can be performed in families in which the specific mutation has been found.