Initial workup and follow-up studies of patients with suspected immune deficiency
Initial workup and follow-up studies of patients with suspected immune deficiency Primary Immunodeficiency Disease Primary Immunodeficiency Disease
«Flowchart»


History and physical exam
CBC with differential counts
Cultures/Imaging
IgG, IgA, IgM, IgE levels
Diphtheria, tetanus titers
Pneumococcus, Haemophilus titers
CH50, AH50


History and physical exam
CBC with differential counts
Cultures/Imaging
IgG, IgA, IgM, IgE levels
Diphtheria, tetanus titers
Pneumococcus, Haemophilus titers
CH50, AH50


History and physical exam
CBC with differential counts
Cultures/Imaging
IgG, IgA, IgM, IgE levels
Diphtheria, tetanus titers
Pneumococcus, Haemophilus titers
CH50, AH50


History and physical exam
CBC with differential counts
Cultures/Imaging
IgG, IgA, IgM, IgE levels
Diphtheria, tetanus titers
Pneumococcus, Haemophilus titers
CH50, AH50


History and physical exam
CBC with differential counts
Cultures/Imaging
IgG, IgA, IgM, IgE levels
Diphtheria, tetanus titers
Pneumococcus, Haemophilus titers Pneumococcus, Haemophilus titers
CH50, AH50 50 50

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If normal, consult with
clinical immunologist,
consider the following

If normal, consult with
clinical immunologist,
consider the following



If normal, consult

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Suspect phagocyte defect


Dihydrorhodamine for CGD
Flow cytometry for LAD1 (CD11/CD18) or LAD2 (CD15)
Consider neutrophil chemotaxis assays
IL-12 receptor/IFN receptor expression and function
Genetic testing

Suspect phagocyte defect


Dihydrorhodamine for CGD
Flow cytometry for LAD1 (CD11/CD18) or LAD2 (CD15)
Consider neutrophil chemotaxis assays
IL-12 receptor/IFN receptor expression and function
Genetic testing

Suspect phagocyte defect


Dihydrorhodamine for CGD
Flow cytometry for LAD1 (CD11/CD18) or LAD2 (CD15)
Consider neutrophil chemotaxis assays
IL-12 receptor/IFN receptor expression and function
Genetic testing


Dihydrorhodamine for CGD
Flow cytometry for LAD1 (CD11/CD18) or LAD2 (CD15)
Consider neutrophil chemotaxis assays
IL-12 receptor/IFN receptor expression and function
Genetic testing Suspect phagocyte defect

Suspect humoral defect


Flow cytometry for T cells (CD4, CD8), B cells, NK cells
Enumerate percentage of naïve, memory, and switched memory B cells
Functional B cell studies
Genetic testing

Suspect humoral defect


Flow cytometry for T cells (CD4, CD8), B cells, NK cells
Enumerate percentage of naïve, memory, and switched memory B cells
Functional B cell studies
Genetic testing

Suspect humoral defect


Flow cytometry for T cells (CD4, CD8), B cells, NK cells
Enumerate percentage of naïve, memory, and switched memory B cells
Functional B cell studies
Genetic testing


Flow cytometry for T cells (CD4, CD8), B cells, NK cells
Enumerate percentage of naïve, memory, and switched memory B cells
Functional B cell studies
Genetic testing Suspect humoral defect

Suspect combined defect


Flow cytometry for T cells (CD4, CD8), B cells, NK cells
Enumerate percentage of memory vs naïve T cells (CD45 isoform expression)
T cell mitogen studies
Genetic testing

Suspect combined defect


Flow cytometry for T cells (CD4, CD8), B cells, NK cells
Enumerate percentage of memory vs naïve T cells (CD45 isoform expression)
T cell mitogen studies
Genetic testing

Suspect combined defect


Flow cytometry for T cells (CD4, CD8), B cells, NK cells
Enumerate percentage of memory vs naïve T cells (CD45 isoform expression)
T cell mitogen studies
Genetic testing


Flow cytometry for T cells (CD4, CD8), B cells, NK cells
Enumerate percentage of memory vs naïve T cells (CD45 isoform expression)
T cell mitogen studies
Genetic testing Suspect combined defect