Molecular- and flow cytometry-based diagnosis of primary immunodeficiency disorders.
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.
Oliveira
Joao B
JB
Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA. oliveirajb@cc.nih.gov
Fleisher
Thomas A
TA
D005434:Flow Cytometry / Q000379:methods*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology