Pediatria pre prax 6/2012

New insight into the primary immunodeficiencies

Most immunodeficiencies followed at pediatric clinics are of secondary origin. Frequency of primary immunodeficiencies, rare genetic disorders of structure of one or more components of the immunity are not as rare as previously expected. This group of more than 170 genetic defects is very heterogeneous with regard to molecular mechanisms and clinical presentation. Early identification of a primary immunodeficiency often starts in the practice of a general pediatrician, where the phenotype and relatively simple laboratory tests could make the first suggestion. This is particularly important in the case of severe combined immunodeficiency, which is considered a medical emergency. A sequence of actions is required before the patient is referred to specialized clinic to prevent serious complications.

Keywords: primary immunodeficiencies, genetic defects, severe combined immunodeficiency, immunologic evaluation, child.