Distribution of primary immunodeficiency diseases diagnosed in a pediatric tertiary hospital.

摘要: Background Advances in immunologic techniques recent years have led to increased recognition of primary immunodeficiency disorders, with IgA deficiency the most common phenotype reported by registries. There also been reports associated incidence autoimmunity, allergy, and other diseases. Objectives We wished determine percentage different disorders seen a pediatric tertiary hospital association diseases that are not part classic disorders. Methods performed retrospective review patients referred our allergy/immunology clinic for evaluation recurrent infections during an 8-year period. reviewed pathology postmortem diagnosis immunodeficiencies identified while were alive. Results Of 91 evaluated, majority had predominantly antibody deficiencies (67%). The was specific normal immunoglobulins (23.1%), defined as inability mount adequate response pneumococcal polysaccharides followed IgG2 subclass (17.6%). These two phenotypes diagnosed mostly last 2 survey. Associated diseases, found 40% patients, allergic conditions syndromic/chromosomal Conclusion study reveals frequently disorder patient population. It indicates should be considered abnormalities like present infections.