title: Laboratory evaluation of primary immunodeficiencies.
abstract: Primary immunodeficiencies are congenital disorders caused by defects in different elements of the immune system. Affected patients usually present clinically with recurrent infections, severe infections, or both, as well as autoimmune phenomena that are associated with many of these disorders. Early diagnosis is essential for referral to specialized care centers and the prompt initiation of appropriate therapy. In this article the authors describe a general approach for the investigation of the most common primary immunodeficiencies, outlining the typical clinical symptoms and most appropriate laboratory investigations.
authors.affiliation: Department of Laboratory Medicine, Clinical Center, National Institutes of Health, USA.
authors.forename: João B
authors.initials: JB
authors.lastname: Oliveira
authors.forename: Thomas A
authors.initials: TA
authors.lastname: Fleisher
mesh_terms: D001327:Autoimmune Diseases / Q000175:diagnosis* / Q000209:etiology; D019411:Clinical Laboratory Techniques; D042241:Early Diagnosis; D005817:Genetic Counseling; D006801:Humans; D007109:Immunity / Q000235:genetics; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D007239:Infections / Q000175:diagnosis* / Q000209:etiology; D008487:Medical History Taking