, Volume 10, Issue 6, pp 460-467
Date: 04 Aug 2010

Molecular- and Flow Cytometry-based Diagnosis of Primary Immunodeficiency Disorders

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Primary immunodeficiencies are an expanding group of genetic disorders resulting in recurrent and/or severe infections, autoimmunity, or autoinflammation. The laboratory plays a critical role in the diagnosis of these conditions given their frequently overlapping signs and symptoms. We discuss here advances in flow cytometry and molecular techniques applied to the study of primary immunodeficiencies.