Laboratory evaluation of primary immunodeficiencies

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. Earl...

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Bibliographic Details
Published in:Journal of allergy and clinical immunology 2010-02, Vol.125 (2), p.S297-S305
Main Authors: Oliveira, João B., MD, PhD, Fleisher, Thomas A., MD
Format: Article
Language:English
Subjects:
Allergy and Immunology
Autoimmune Diseases - diagnosis
Autoimmune Diseases - etiology
Bacterial infections
Clinical Laboratory Techniques
Confidence intervals
Cytokines
Defects
Dehydrogenases
Ear diseases
Early Diagnosis
Flow cytometry
Genetic Counseling
Genotype & phenotype
Humans
Immune system
immunity
Immunity - genetics
Immunologic Deficiency Syndromes - complications
Immunologic Deficiency Syndromes - diagnosis
Immunologic Deficiency Syndromes - physiopathology
immunologic diagnosis
Infection - diagnosis
Infection - etiology
Kinases
laboratory assessment
Ligands
Medical History Taking
Patients
Primary immunodeficiency
Proteins
Streptococcus infections
Testing laboratories
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Summary: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.
ISSN:0091-6749
1097-6825
DOI:10.1016/j.jaci.2009.08.043