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Primary Immunodeficiency

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11 Table 2. Laboratory Tests of Immune Function Screening tests Advanced tests Humoral immunity Serum immunoglobulin levels Flow cytometry to enumerate B-cell subsets (eg, naïve and switched memory cells) Serum specific antibody titers In vitro immunoglobulin production in response to mitogens or other stimuli Antibody response to booster immunization Antibody response to immunization with ΦΧ174 Flow cytometry to enumerate total B cells Cellular immunity TREC newborn screening Flow cytometry to enumerate T-cell subsets (eg, naïve, memory, and activated cells) Flow cytometry to enumerate CD4 and CD8 T cells and NK cells In vitro proliferative response to mitogens and antigens Cutaneous delayed hypersensitivity T-cell cytotoxicity Spontaneous NK cytotoxicity In vitro surface marker expression and cytokine production in response to stimuli Cytoplasmic protein phosphorylation in response to stimuli Phagocytic cells Blood cell count with differential Chemotaxis and/or phagocytosis assay Neutrophil staining, morpholog y on a peripheral blood smear Enzyme assays (myeloperoxidase, G6PDH) DHR reduction or nitroblue tetrazolium WBC turnover Flow cytometry for adhesion molecules Bacterial or fungal killing Bone marrow biopsy Complement CH50 assay (total hemolytic complement activity) Level or function of individual complement components AH50 assay (alternative pathway hemolytic activity) Lectin pathway function Genetic tests Microarray for copy number variation Targeted gene sequencing Whole-exome/genome sequencing

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